rs7936636

Variant names:

• chr11-44419420-C-T
• rs7936636
• ENST00000830683.1:n.137-7276C>T

Variant summary

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

The ENST00000830683.1(ENSG00000308049):​n.137-7276C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.245 in 152,114 control chromosomes in the GnomAD database, including 4,856 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 0.24 (4856 hom., cov: 32)
• Consequence: ENSG00000308049 ENST00000830683.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00500
• Publications: 3 publications found

Genes affected

ENSG00000308049 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.355 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000830683.1. 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
	ENSG00000308049	ENST00000830683.1		n.137-7276C>T		intron	N/A
	ENSG00000308049	ENST00000830684.1		n.221-7276C>T		intron	N/A
	ENSG00000308049	ENST00000830685.1		n.155-7276C>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.245 AC: 37177 AN: 151996 Hom.: 4830 Cov.: 32

Gnomad AFR AF: 0.209

Gnomad AMI AF: 0.243

Gnomad AMR AF: 0.363

Gnomad ASJ AF: 0.249

Gnomad EAS AF: 0.189

Gnomad SAS AF: 0.160

Gnomad FIN AF: 0.192

Gnomad MID AF: 0.241

Gnomad NFE AF: 0.258

Gnomad OTH AF: 0.264

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

GnomAD4 genome AF: 0.245 AC: 37248 AN: 152114 Hom.: 4856 Cov.: 32 AF XY: 0.245 AC XY: 18205 AN XY: 74350

African (AFR) AF: 0.210 AC: 8704 AN: 41512

American (AMR) AF: 0.363 AC: 5550 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.249 AC: 862 AN: 3468

East Asian (EAS) AF: 0.189 AC: 978 AN: 5164

South Asian (SAS) AF: 0.160 AC: 770 AN: 4810

European-Finnish (FIN) AF: 0.192 AC: 2030 AN: 10590

Middle Eastern (MID) AF: 0.241 AC: 71 AN: 294

European-Non Finnish (NFE) AF: 0.258 AC: 17511 AN: 67968

Other (OTH) AF: 0.261 AC: 551 AN: 2110

Alfa AF: 0.254 Hom.: 21054

Bravo AF: 0.255

Asia WGS AF: 0.197 AC: 687 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	1.6
DANN	Benign	0.71
PhyloP100		-0.0050

Splicing

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

Other links and lift over

dbSNP: rs7936636; hg19: chr11-44440970;