rs8193036

Variant names:

• chr6-52185695-C-T
• rs8193036

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 6-52185695-C-T has been identified. The variant allele was found at a cumulative frequency of 0.714 (AC=108,240) in the gnomAD database across 151,588 control chromosomes, including 39,418 homozygotes. The grpmax filtering allele frequency (95% CI) is 0.756. 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 0.71 (39418 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.535
• Publications: 129 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 = 0.7562 — 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: 0.714	AC:108160	Hom:39387	AN:151466	Cov:28
GnomAD4 genome	AF: 0.714	AC:108240	Hom:39418	AN:151588	Cov:28
TOPMed (Bravo)	AF: 0.731	AC:	Hom:	AN:	Cov:
ALFA (dbGaP/dbSNP Allele Frequency Aggregator)	AF: 0.737	AC:250667	Hom:93008	AN:340180	Cov:
Local & regional cohorts 10 sources Population-specific and national genomic databases
ABraOM SABE-WGS-1171	AF: 0.770	AC:1804	Hom:698	AN:2342	Cov:
ChinaMAP Phase 1	AF: 0.285	AC:	Hom:	AN:	Cov:
Denmark Genome	AF: 0.683	AC:205	Hom:	AN:300	Cov:
GenomeAsia100K	AF: 0.482	AC:1679	Hom:	AN:3478	Cov:
Korea4K (4,157 Koreans)	AF: 0.306	AC:2215	Hom:	AN:7230	Cov:
Qatari Genome	AF: 0.784	AC:138	Hom:	AN:176	Cov:
ToMMo 61KJPN (+60KJPN MNV)	AF: 0.394	AC:48334	Hom:9579	AN:122682	Cov:
Turkish Variome	AF: 0.766	AC:1185	Hom:450	AN:1546	Cov:
UK10K	AF: 0.735	AC:5559	Hom:	AN:7562	Cov:
WBBC (Westlake BioBank for Chinese) pilot	AF: 0.273	AC:2449	Hom:364	AN:8960	Cov:

Showing 14 sources

Tested, but no data found:GnomAD4 exomeIf GnomAD4 is missing, the position is probably not covered by the project.

ClinVar

Not reported in ClinVar

Computational Scores

Algorithm	Calibrated pred.	Score	Prediction
AlphaGenome AVI	Benign	0.71
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.1
DANN	Benign	0.36
GPN-Star LLR	N/A	3.8
GPN-Star score	N/A	-0.52
PhyloP100	Benign	-0.54

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: rs8193036;

hg19: chr6-52050493;

ACMG debug oncogenicity

ACGS debug oncogenicity

ACMG debug germline

Submit to ClinVar