rs7855735

Variant names:

• chr9-115749764-A-G
• rs7855735
• ENST00000832032.1:n.322-8202T>C

Variant summary

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

The ENST00000832032.1(ENSG00000228714):​n.322-8202T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.132 in 151,892 control chromosomes in the GnomAD database, including 1,562 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 0.13 (1562 hom., cov: 32)
• Consequence: ENSG00000228714 ENST00000832032.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.33
• Publications: 2 publications found

Genes affected

ENSG00000228714 (HGNC:):

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 (AFR) allele frequency at 95% confidence interval = 0.21 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000832032.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000228714	ENST00000832032.1		n.322-8202T>C		intron	N/A
	ENSG00000308189	ENST00000832372.1		n.305+2038A>G		intron	N/A
	ENSG00000308189	ENST00000832373.1		n.334+2038A>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.132 AC: 20051 AN: 151772 Hom.: 1557 Cov.: 32

Gnomad AFR AF: 0.214

Gnomad AMI AF: 0.0791

Gnomad AMR AF: 0.131

Gnomad ASJ AF: 0.0716

Gnomad EAS AF: 0.0608

Gnomad SAS AF: 0.104

Gnomad FIN AF: 0.103

Gnomad MID AF: 0.114

Gnomad NFE AF: 0.0986

Gnomad OTH AF: 0.126

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

GnomAD4 genome AF: 0.132 AC: 20084 AN: 151892 Hom.: 1562 Cov.: 32 AF XY: 0.132 AC XY: 9787 AN XY: 74252

African (AFR) AF: 0.214 AC: 8870 AN: 41442

American (AMR) AF: 0.131 AC: 1992 AN: 15208

Ashkenazi Jewish (ASJ) AF: 0.0716 AC: 248 AN: 3466

East Asian (EAS) AF: 0.0607 AC: 313 AN: 5154

South Asian (SAS) AF: 0.103 AC: 498 AN: 4816

European-Finnish (FIN) AF: 0.103 AC: 1094 AN: 10572

Middle Eastern (MID) AF: 0.116 AC: 34 AN: 294

European-Non Finnish (NFE) AF: 0.0986 AC: 6700 AN: 67920

Other (OTH) AF: 0.125 AC: 263 AN: 2110

Alfa AF: 0.107 Hom.: 1623

Bravo AF: 0.140

Asia WGS AF: 0.0920 AC: 320 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.40
DANN	Benign	0.80
PhyloP100		-1.3

Splicing

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.

Other links and lift over

dbSNP: rs7855735;

hg19: chr9-118512043;