rs16850914

Positions:

• chr2-165565500-G-A

Variant summary

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

The NM_001172173.2(CSRNP3):​c.-23-29543G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.205 in 151,960 control chromosomes in the GnomAD database, including 3,378 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 0.20 (3378 hom., cov: 32)
• Consequence: CSRNP3 NM_001172173.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.688

Genes affected

CSRNP3 (HGNC:30729): (cysteine and serine rich nuclear protein 3) Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Predicted to be involved in positive regulation of apoptotic process and positive regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.27 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CSRNP3	NM_001172173.2	c.-23-29543G>A		intron_variant		ENST00000651982.1	NP_001165644.1
CSRNP3	XM_024453155.2	c.-23-29543G>A		intron_variant			XP_024308923.1
CSRNP3	XM_047445908.1	c.-23-29543G>A		intron_variant			XP_047301864.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CSRNP3	ENST00000651982.1	c.-23-29543G>A		intron_variant			NM_001172173.2	ENSP00000498841	P1

Frequencies

GnomAD3 genomes AF: 0.205 AC: 31082 AN: 151842 Hom.: 3379 Cov.: 32

Gnomad AFR AF: 0.145

Gnomad AMI AF: 0.214

Gnomad AMR AF: 0.265

Gnomad ASJ AF: 0.231

Gnomad EAS AF: 0.252

Gnomad SAS AF: 0.282

Gnomad FIN AF: 0.254

Gnomad MID AF: 0.272

Gnomad NFE AF: 0.208

Gnomad OTH AF: 0.214

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

GnomAD4 genome AF: 0.205 AC: 31098 AN: 151960 Hom.: 3378 Cov.: 32 AF XY: 0.208 AC XY: 15453 AN XY: 74292

Gnomad4 AFR AF: 0.145

Gnomad4 AMR AF: 0.265

Gnomad4 ASJ AF: 0.231

Gnomad4 EAS AF: 0.253

Gnomad4 SAS AF: 0.283

Gnomad4 FIN AF: 0.254

Gnomad4 NFE AF: 0.208

Gnomad4 OTH AF: 0.215

Alfa AF: 0.208 Hom.: 3557

Bravo AF: 0.202

Asia WGS AF: 0.266 AC: 924 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.9
DANN	Benign	0.43

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: rs16850914; hg19: chr2-166422010;