rs7331765

Variant names:

• chr13-27270556-A-C
• rs7331765

Your query was ambiguous. Multiple possible variants found:

• chr13-27270556-A-C
• chr13-27270556-A-G

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 33)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.138
• Publications: 9 publications found

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).

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 Cov.: 33

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 47100 Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0 AN XY: 23810

African (AFR) AF: 0.00 AC: 0 AN: 1036

American (AMR) AF: 0.00 AC: 0 AN: 680

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 1466

East Asian (EAS) AF: 0.00 AC: 0 AN: 1364

South Asian (SAS) AF: 0.00 AC: 0 AN: 5082

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 3198

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 212

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 30882

Other (OTH) AF: 0.00 AC: 0 AN: 3180

GnomAD4 genome Cov.: 33

Alfa AF: 0.00 Hom.: 22550

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	5.9
DANN	Benign	0.67
PhyloP100		-0.14
PromoterAI		-0.015	Neutral

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs7331765; hg19: chr13-27844693;