rs4324501

chr3-158458200-T-Cchr3-158458200-T-G

Variant summary

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

The NM_001271838.2(RSRC1):c.584-2735T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.321 in 151,960 control chromosomes in the GnomAD database, including 8,602 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 0.32 (8602 hom., cov: 31)
• Consequence: RSRC1 NM_001271838.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.749

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]

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 (SAS) allele frequency at 95% confidence interval = 0.446 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
RSRC1	NM_001271838.2	c.584-2735T>C		intron_variant		ENST00000611884.5

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
RSRC1	ENST00000611884.5	c.584-2735T>C		intron_variant		5	NM_001271838.2	P4

Frequencies

GnomAD3 genomes AF: 0.321 AC: 48739 AN: 151844 Hom.: 8604 Cov.: 31

Gnomad AFR AF: 0.177

Gnomad AMI AF: 0.276

Gnomad AMR AF: 0.396

Gnomad ASJ AF: 0.366

Gnomad EAS AF: 0.203

Gnomad SAS AF: 0.462

Gnomad FIN AF: 0.302

Gnomad MID AF: 0.472

Gnomad NFE AF: 0.391

Gnomad OTH AF: 0.330

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

GnomAD4 genome AF: 0.321 AC: 48749 AN: 151960 Hom.: 8602 Cov.: 31 AF XY: 0.322 AC XY: 23885 AN XY: 74274

Gnomad4 AFR AF: 0.177

Gnomad4 AMR AF: 0.396

Gnomad4 ASJ AF: 0.366

Gnomad4 EAS AF: 0.202

Gnomad4 SAS AF: 0.462

Gnomad4 FIN AF: 0.302

Gnomad4 NFE AF: 0.391

Gnomad4 OTH AF: 0.333

Alfa AF: 0.321 Hom.: 2649

Bravo AF: 0.319

Asia WGS AF: 0.352 AC: 1223 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	7.2
Dann	Benign	0.54

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: rs4324501; hg19: chr3-158175989;