rs11974610

chr7-99930354-G-A

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000456499.1(ENSG00000237640):n.327+636G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.287 in 152,036 control chromosomes in the GnomAD database, including 8,245 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 0.29 (8245 hom., cov: 32)
• Consequence: ENST00000456499.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0920

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.537 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
GJC3	XM_047420329.1	c.-734C>T		5_prime_UTR_variant	1/3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
	ENST00000456499.1	n.327+636G>A		intron_variant, non_coding_transcript_variant		3

Frequencies

GnomAD3 genomes AF: 0.287 AC: 43600 AN: 151918 Hom.: 8222 Cov.: 32

Gnomad AFR AF: 0.542

Gnomad AMI AF: 0.107

Gnomad AMR AF: 0.226

Gnomad ASJ AF: 0.166

Gnomad EAS AF: 0.141

Gnomad SAS AF: 0.127

Gnomad FIN AF: 0.185

Gnomad MID AF: 0.146

Gnomad NFE AF: 0.194

Gnomad OTH AF: 0.251

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

GnomAD4 genome AF: 0.287 AC: 43662 AN: 152036 Hom.: 8245 Cov.: 32 AF XY: 0.281 AC XY: 20919 AN XY: 74322

Gnomad4 AFR AF: 0.542

Gnomad4 AMR AF: 0.226

Gnomad4 ASJ AF: 0.166

Gnomad4 EAS AF: 0.141

Gnomad4 SAS AF: 0.126

Gnomad4 FIN AF: 0.185

Gnomad4 NFE AF: 0.194

Gnomad4 OTH AF: 0.249

Alfa AF: 0.202 Hom.: 5828

Bravo AF: 0.302

Asia WGS AF: 0.152 AC: 527 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
Cadd	Benign	1.8
Dann	Benign	0.24

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11974610; hg19: chr7-99527977; COSMIC: COSV57210426;