rs10193430

Positions:

• chr2-103970893-T-A
• chr2-103970893-T-G

Variant summary

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

The ENST00000688553.1(LINC01965):​n.211-82611T>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 0.177 in 152,052 control chromosomes in the GnomAD database, including 2,654 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 0.18 (2654 hom., cov: 32)
• Consequence: LINC01965 ENST00000688553.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.289

Genes affected

LINC01965 (HGNC:52790): (long intergenic non-protein coding RNA 1965)

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.255 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LINC01965	XR_001739621.2	n.158-82611T>A		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
LINC01965	ENST00000688553.1	n.211-82611T>A		intron_variant, non_coding_transcript_variant
LINC01965	ENST00000537492.5	n.137-82611T>A		intron_variant, non_coding_transcript_variant		4
LINC01965	ENST00000544869.5	n.116-82611T>A		intron_variant, non_coding_transcript_variant		4

Frequencies

GnomAD3 genomes AF: 0.177 AC: 26954 AN: 151934 Hom.: 2649 Cov.: 32

Gnomad AFR AF: 0.259

Gnomad AMI AF: 0.121

Gnomad AMR AF: 0.0979

Gnomad ASJ AF: 0.191

Gnomad EAS AF: 0.245

Gnomad SAS AF: 0.152

Gnomad FIN AF: 0.0976

Gnomad MID AF: 0.124

Gnomad NFE AF: 0.156

Gnomad OTH AF: 0.151

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

GnomAD4 genome AF: 0.177 AC: 26974 AN: 152052 Hom.: 2654 Cov.: 32 AF XY: 0.174 AC XY: 12939 AN XY: 74342

Gnomad4 AFR AF: 0.259

Gnomad4 AMR AF: 0.0978

Gnomad4 ASJ AF: 0.191

Gnomad4 EAS AF: 0.245

Gnomad4 SAS AF: 0.151

Gnomad4 FIN AF: 0.0976

Gnomad4 NFE AF: 0.156

Gnomad4 OTH AF: 0.149

Alfa AF: 0.172 Hom.: 298

Bravo AF: 0.181

Asia WGS AF: 0.142 AC: 492 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	0.33
DANN	Benign	0.79

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10193430; hg19: chr2-104587351;