rs211811

Variant names:

• chr7-110443615-A-G
• rs211811
• ENST00000435466.2:n.328-10709T>C

Your query was ambiguous. Multiple possible variants found:

• chr7-110443615-A-G
• chr7-110443615-A-T

Variant summary

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

The ENST00000435466.2(ENSG00000226965):​n.328-10709T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.882 in 152,036 control chromosomes in the GnomAD database, including 59,218 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 0.88 (59218 hom., cov: 29)
• Consequence: ENSG00000226965 ENST00000435466.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.581
• Publications: 1 publications found

Genes affected

ENSG00000226965 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.918 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC105375450	XR_927862.3	n.391+163A>G		intron_variant	Intron 2 of 2
LOC105375451	XR_927863.3	n.291-10709T>C		intron_variant	Intron 3 of 4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000226965	ENST00000435466.2	n.328-10709T>C		intron_variant	Intron 3 of 4	4
ENSG00000226965	ENST00000657059.1	n.438-10709T>C		intron_variant	Intron 1 of 2
ENSG00000226965	ENST00000658032.1	n.330+67445T>C		intron_variant	Intron 3 of 5

Frequencies

GnomAD3 genomes AF: 0.882 AC: 133980 AN: 151918 Hom.: 59174 Cov.: 29

Gnomad AFR AF: 0.919

Gnomad AMI AF: 0.878

Gnomad AMR AF: 0.874

Gnomad ASJ AF: 0.829

Gnomad EAS AF: 0.940

Gnomad SAS AF: 0.874

Gnomad FIN AF: 0.909

Gnomad MID AF: 0.873

Gnomad NFE AF: 0.856

Gnomad OTH AF: 0.878

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

GnomAD4 genome AF: 0.882 AC: 134085 AN: 152036 Hom.: 59218 Cov.: 29 AF XY: 0.884 AC XY: 65669 AN XY: 74292

African (AFR) AF: 0.919 AC: 38086 AN: 41464

American (AMR) AF: 0.874 AC: 13347 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.829 AC: 2880 AN: 3472

East Asian (EAS) AF: 0.940 AC: 4851 AN: 5160

South Asian (SAS) AF: 0.874 AC: 4202 AN: 4806

European-Finnish (FIN) AF: 0.909 AC: 9618 AN: 10582

Middle Eastern (MID) AF: 0.874 AC: 257 AN: 294

European-Non Finnish (NFE) AF: 0.856 AC: 58189 AN: 67968

Other (OTH) AF: 0.879 AC: 1856 AN: 2112

Alfa AF: 0.880 Hom.: 7184

Bravo AF: 0.882

Asia WGS AF: 0.898 AC: 3120 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	3.8
DANN	Benign	0.54
PhyloP100		0.58

Splicing

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

Other links and lift over

dbSNP: rs211811; hg19: chr7-110083672;