3-158210110-T-C

Position:

• chr3-158210110-T-C

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The NM_001271838.2(RSRC1):​c.494+6865T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.571 in 151,804 control chromosomes in the GnomAD database, including 25,142 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 0.57 (25142 hom., cov: 31)
• Consequence: RSRC1 NM_001271838.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.88

Genes affected

RSRC1 (HGNC:24152): (arginine and serine rich coiled-coil 1) This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]

RSRC1 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.26).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.709 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
RSRC1	NM_001271838.2	c.494+6865T>C		intron_variant		ENST00000611884.5	NP_001258767.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
RSRC1	ENST00000611884.5	c.494+6865T>C		intron_variant		5	NM_001271838.2	ENSP00000481697.1

Frequencies

GnomAD3 genomes AF: 0.571 AC: 86687 AN: 151686 Hom.: 25123 Cov.: 31

Gnomad AFR AF: 0.508

Gnomad AMI AF: 0.779

Gnomad AMR AF: 0.611

Gnomad ASJ AF: 0.662

Gnomad EAS AF: 0.729

Gnomad SAS AF: 0.483

Gnomad FIN AF: 0.653

Gnomad MID AF: 0.571

Gnomad NFE AF: 0.575

Gnomad OTH AF: 0.608

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

GnomAD4 genome AF: 0.571 AC: 86740 AN: 151804 Hom.: 25142 Cov.: 31 AF XY: 0.576 AC XY: 42696 AN XY: 74182

Gnomad4 AFR AF: 0.507

Gnomad4 AMR AF: 0.612

Gnomad4 ASJ AF: 0.662

Gnomad4 EAS AF: 0.729

Gnomad4 SAS AF: 0.483

Gnomad4 FIN AF: 0.653

Gnomad4 NFE AF: 0.575

Gnomad4 OTH AF: 0.610

Alfa AF: 0.581 Hom.: 21760

Bravo AF: 0.570

Asia WGS AF: 0.599 AC: 2083 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.26
CADD	Benign	19
DANN	Benign	0.89

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs1729997; hg19: chr3-157927899;