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.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000435466.2. 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
	ENSG00000226965	ENST00000435466.2	TSL:4	n.328-10709T>C		intron	N/A
	ENSG00000226965	ENST00000657059.1		n.438-10709T>C		intron	N/A
	ENSG00000226965	ENST00000658032.1		n.330+67445T>C		intron	N/A

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 v4.9

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;