rs6436555

Variant names:

• chr2-156631765-A-C
• rs6436555

Your query was ambiguous. Multiple possible variants found:

• chr2-156631765-A-C
• chr2-156631765-A-G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.468 in 151,922 control chromosomes in the GnomAD database, including 17,108 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.47 (17108 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.647
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.502 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.468 AC: 71039 AN: 151802 Hom.: 17106 Cov.: 32

Gnomad AFR AF: 0.470

Gnomad AMI AF: 0.417

Gnomad AMR AF: 0.372

Gnomad ASJ AF: 0.416

Gnomad EAS AF: 0.224

Gnomad SAS AF: 0.457

Gnomad FIN AF: 0.498

Gnomad MID AF: 0.423

Gnomad NFE AF: 0.506

Gnomad OTH AF: 0.465

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.468 AC: 71069 AN: 151922 Hom.: 17108 Cov.: 32 AF XY: 0.465 AC XY: 34510 AN XY: 74274

African (AFR) AF: 0.470 AC: 19476 AN: 41428

American (AMR) AF: 0.372 AC: 5677 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.416 AC: 1444 AN: 3472

East Asian (EAS) AF: 0.224 AC: 1157 AN: 5176

South Asian (SAS) AF: 0.457 AC: 2204 AN: 4820

European-Finnish (FIN) AF: 0.498 AC: 5237 AN: 10514

Middle Eastern (MID) AF: 0.417 AC: 121 AN: 290

European-Non Finnish (NFE) AF: 0.506 AC: 34404 AN: 67938

Other (OTH) AF: 0.462 AC: 971 AN: 2104

Alfa AF: 0.487 Hom.: 19516

Bravo AF: 0.451

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.28
DANN	Benign	0.61
PhyloP100		-0.65

Splicing

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

Other links and lift over

dbSNP: rs6436555; hg19: chr2-157488277;