rs7104311

Variant names:

• chr11-13232957-C-A
• rs7104311

Your query was ambiguous. Multiple possible variants found:

• chr11-13232957-C-A
• chr11-13232957-C-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 0.711 in 151,938 control chromosomes in the GnomAD database, including 39,043 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 0.71 (39043 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.373
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.774 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: 0.711 AC: 107877 AN: 151818 Hom.: 39008 Cov.: 31

Gnomad AFR AF: 0.587

Gnomad AMI AF: 0.663

Gnomad AMR AF: 0.711

Gnomad ASJ AF: 0.849

Gnomad EAS AF: 0.483

Gnomad SAS AF: 0.725

Gnomad FIN AF: 0.798

Gnomad MID AF: 0.823

Gnomad NFE AF: 0.779

Gnomad OTH AF: 0.756

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

GnomAD4 genome AF: 0.711 AC: 107960 AN: 151938 Hom.: 39043 Cov.: 31 AF XY: 0.711 AC XY: 52831 AN XY: 74262

African (AFR) AF: 0.587 AC: 24321 AN: 41404

American (AMR) AF: 0.711 AC: 10860 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.849 AC: 2943 AN: 3466

East Asian (EAS) AF: 0.484 AC: 2492 AN: 5150

South Asian (SAS) AF: 0.728 AC: 3510 AN: 4824

European-Finnish (FIN) AF: 0.798 AC: 8414 AN: 10546

Middle Eastern (MID) AF: 0.813 AC: 239 AN: 294

European-Non Finnish (NFE) AF: 0.779 AC: 52979 AN: 67968

Other (OTH) AF: 0.758 AC: 1597 AN: 2108

Alfa AF: 0.761 Hom.: 141643

Bravo AF: 0.700

Asia WGS AF: 0.614 AC: 2136 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	2.4
DANN	Benign	0.58
PhyloP100		0.37

Splicing

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

Other links and lift over

dbSNP: rs7104311; hg19: chr11-13254504;