rs1150735

Variant names:

• chr6-30077422-G-A
• rs1150735

Your query was ambiguous. Multiple possible variants found:

• chr6-30077422-G-A
• chr6-30077422-G-C
• chr6-30077422-G-T

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 0.302 in 151,834 control chromosomes in the GnomAD database, including 7,840 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 0.30 (7840 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.897
• Publications: 39 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.372 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: 0.302 AC: 45858 AN: 151716 Hom.: 7829 Cov.: 31

Gnomad AFR AF: 0.143

Gnomad AMI AF: 0.587

Gnomad AMR AF: 0.295

Gnomad ASJ AF: 0.279

Gnomad EAS AF: 0.317

Gnomad SAS AF: 0.344

Gnomad FIN AF: 0.420

Gnomad MID AF: 0.325

Gnomad NFE AF: 0.376

Gnomad OTH AF: 0.285

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

GnomAD4 genome AF: 0.302 AC: 45885 AN: 151834 Hom.: 7840 Cov.: 31 AF XY: 0.305 AC XY: 22608 AN XY: 74172

African (AFR) AF: 0.143 AC: 5944 AN: 41450

American (AMR) AF: 0.295 AC: 4506 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.279 AC: 966 AN: 3468

East Asian (EAS) AF: 0.317 AC: 1626 AN: 5134

South Asian (SAS) AF: 0.343 AC: 1648 AN: 4806

European-Finnish (FIN) AF: 0.420 AC: 4393 AN: 10468

Middle Eastern (MID) AF: 0.322 AC: 94 AN: 292

European-Non Finnish (NFE) AF: 0.376 AC: 25562 AN: 67926

Other (OTH) AF: 0.291 AC: 612 AN: 2104

Alfa AF: 0.352 Hom.: 42425

Bravo AF: 0.285

Asia WGS AF: 0.336 AC: 1171 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.12
DANN	Benign	0.39
PhyloP100		-0.90

Splicing

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

Other links and lift over

dbSNP: rs1150735; hg19: chr6-30045199;