Is DSP c.1701+167A>G pathogenic?

DSP c.1701+167A>G is classified Benign in DSP (ClinVar, Single submitter, 1 submitter; last evaluated 2018-06-13). Common (popmax 81.7%, eas) — too common for a highly-penetrant pathogenic allele.

DSP c.1701+167A>G

Q: How common is DSP c.1701+167A>G in the general population?

DSP c.1701+167A>G is common (popmax 81.7%, eas) — too common for a highly-penetrant pathogenic allele (gnomAD).

rs2076302 · VCV672133

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Common

common (popmax 81.7%, eas) — too common for a highly-penetrant pathogenic allele

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
Splice region	donor +167	deep intronic (+167 nt into the intron)
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.18	GERP -3.6, phastCons 0.023
Non-coding constraint	Z 3.12	1 kb window · o/e 0.77 · regional · uncalibrated
Overall
CADD	1.859	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 81.7% East Asian · 4,220/5,164 alleles

Filtering AF 79.7% ClinGen BA1/BS1 input FAF95, joint · FAF99 78.9%

Overall 77.9% 118,469/152,106 alleles · common

Ancestry group	Frequency	1 in
Ashkenazi Jewishnot grpmax-eligible	84.4%	1
East Asiangrpmax	81.7%	1
Middle Eastern	81.3%	1
African / African-American	79.9%	1
Admixed American	78.9%	1
Amishnot grpmax-eligible	78.4%	1
Remaining individualsnot grpmax-eligible	77.9%	1
European (non-Finnish)	77.2%	1
Finnishnot grpmax-eligible	71.9%	1
South Asian	70.5%	1

Ashkenazi Jewish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: DSP
Coding: c.1701+167A>G
MANE Select: NM_004415
dbSNP: rs2076302
Type: single nucleotide variant
Location: chr6:7570730 (GRCh38)
Gene constraint: LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)

Full DSP gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DSP c.1141-2A>G Likely pathogenic ★★ same type
DSP c.1141-2A>T Likely pathogenic ★★ same type
DSP c.1266+2T>C Likely pathogenic ★★ same type
DSP c.1574+1G>A Likely pathogenic ★★ same type
DSP c.2130+1G>A Pathogenic/Likely pathogenic ★★ same type
DSP c.2297+1G>A Likely pathogenic ★★ same type
DSP c.2298-1G>C Likely pathogenic ★★ same type
DSP c.2298-2A>C Pathogenic/Likely pathogenic ★★ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/dsp-c-1701-plus-167a-g (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown