12-53771229-T-C

Position:

• chr12-53771229-T-C

Variant summary

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

The ENST00000663306.1(ENSG00000286069):​n.278+31341T>C 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 0.211 in 152,084 control chromosomes in the GnomAD database, including 3,763 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 0.21 (3763 hom., cov: 32)
• Consequence: ENST00000663306.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.188

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.295 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
LOC107984525	XR_002957415.2	n.250+1265T>C		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
	ENST00000663306.1	n.278+31341T>C		intron_variant, non_coding_transcript_variant
	ENST00000652339.1	n.213+31341T>C		intron_variant, non_coding_transcript_variant
	ENST00000654713.1	n.214+31341T>C		intron_variant, non_coding_transcript_variant
	ENST00000656247.1	n.143+20239T>C		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.211 AC: 32118 AN: 151964 Hom.: 3757 Cov.: 32

Gnomad AFR AF: 0.299

Gnomad AMI AF: 0.286

Gnomad AMR AF: 0.199

Gnomad ASJ AF: 0.177

Gnomad EAS AF: 0.0705

Gnomad SAS AF: 0.0995

Gnomad FIN AF: 0.102

Gnomad MID AF: 0.177

Gnomad NFE AF: 0.198

Gnomad OTH AF: 0.204

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

GnomAD4 genome AF: 0.211 AC: 32145 AN: 152084 Hom.: 3763 Cov.: 32 AF XY: 0.205 AC XY: 15207 AN XY: 74348

Gnomad4 AFR AF: 0.299

Gnomad4 AMR AF: 0.199

Gnomad4 ASJ AF: 0.177

Gnomad4 EAS AF: 0.0707

Gnomad4 SAS AF: 0.0995

Gnomad4 FIN AF: 0.102

Gnomad4 NFE AF: 0.198

Gnomad4 OTH AF: 0.202

Alfa AF: 0.199 Hom.: 6275

Bravo AF: 0.224

Asia WGS AF: 0.111 AC: 386 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.9
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11170681; hg19: chr12-54165013;