3-103794592-C-T

Variant names:

• chr3-103794592-C-T
• rs1673866

GermlineCancer (beta)

Variant summary

Our verdict is Benign.

<-10 Benign

-7

-6

-1

0

+5

+6

+9

+10

BenignB

Likely BenignLB

UncertainVUS

Likely PathogenicLP

PathogenicP

The variant received -12 classification points (ACMG Germline Pathogenicity v2019). BA1BP4_Strong

The variant 3-103794592-C-T has been identified. The variant allele was found at a cumulative frequency of 0.279 (AC=42,262) in the gnomAD database across 151,392 control chromosomes, including 6,688 homozygotes. The grpmax filtering allele frequency (95% CI) is 0.351. In-silico predictor (BayesDel (noAF)) classifies this variant as likely benign. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.28 (6688 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.30
• Publications: 6 publications found

Classification according to ACMG Germline Pathogenicity v2019

Our verdict: Benign. The variant received -12 points.

Apply	Criterion Code & Title / Strength	Strength	Rationale / Clinical Context
	BP4Computational evidence suggests no impact		Computational evidence supports benign — no pathogenic computational or splicing signal (BP4); No splicing predictor data available.; Germline computational verdict: benign (Strong).
	BA1Stand-alone benign allele frequency (>5%)		GnomAD effective popmax AF >5% — BA1 stand-alone benign; GnomAD reliable popmax AF = 0.3513 — exceeds 5%% threshold (BA1 applied)

Variant Effect in Transcripts

 

RefSeq Transcripts

There are no transcript annotations for this variant.

Ensembl Transcripts

There are no transcript annotations for this variant.

Frequencies

Allele frequencies (AF), counts (AC/AN), homozygotes and coverage

Common (AF > 0.05 / Hom > 5)

Rare (AF ≤ 0.0001 / Hom ≤ 1)

Source / population	AF	AC	Hom	AN	Coverage
Global population databases 4 sources Large-scale international reference populations
GnomAD3 genomes	AF: 0.279	AC:42268	Hom:6689	AN:151274	Cov:32
GnomAD4 genome	AF: 0.279	AC:42262	Hom:6688	AN:151392	Cov:32
TOPMed (Bravo)	AF: 0.276	AC:	Hom:	AN:	Cov:
ALFA (dbGaP/dbSNP Allele Frequency Aggregator)	AF: 0.316	AC:99028	Hom:16907	AN:313776	Cov:
Local & regional cohorts 10 sources Population-specific and national genomic databases
ABraOM SABE-WGS-1171	AF: 0.320	AC:750	Hom:122	AN:2342	Cov:
ChinaMAP Phase 1	AF: 0.155	AC:	Hom:	AN:	Cov:
Denmark Genome	AF: 0.327	AC:98	Hom:	AN:300	Cov:
GenomeAsia100K	AF: 0.131	AC:457	Hom:	AN:3476	Cov:
Korea4K (4,157 Koreans)	AF: 0.128	AC:921	Hom:	AN:7218	Cov:
Qatari Genome	AF: 0.307	AC:54	Hom:	AN:176	Cov:
ToMMo 61KJPN (+60KJPN MNV)	AF: 0.111	AC:13520	Hom:771	AN:122028	Cov:
Turkish Variome	AF: 0.391	AC:604	Hom:127	AN:1544	Cov:
UK10K	AF: 0.344	AC:2604	Hom:	AN:7562	Cov:
WBBC (Westlake BioBank for Chinese) pilot	AF: 0.150	AC:1348	Hom:118	AN:8960	Cov:

Showing 14 sources

ClinVar

Not reported in ClinVar

Computational Scores

Algorithm	Calibrated pred.	Score	Prediction
AlphaGenome AVI	Benign	7.8
BayesDel_noAF	Benign	-0.91
CADD	Benign	13
DANN	Benign	0.54
GPN-Star LLR	N/A	4.0
GPN-Star score	N/A	3.6
PhyloP100	Benign	1.3

Showing 7 of 7 scores

Splicing Scores

No splicing scores have been computed for this variant.

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

MaveDB functional evidence

MaveDB is a public repository of laboratory assays that test the effect of thousands of variants at once — treat this as supporting research data and interpret it with great caution; it is not a clinical classification.

No MaveDB functional evidence found for this variant.

Other links and lift over

dbSNP: rs1673866;

hg19: chr3-103513436;

ACMG debug oncogenicity

ACGS debug oncogenicity

ACMG debug germline

Submit to ClinVar