2-36851211-G-A

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_Strong BP6_Moderate BA1

The NM_003162.4(STRN):c.1979-104C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0162 in 1,003,526 control chromosomes in the GnomAD database, including 230 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency:
  • Genomes: 𝑓 0.028 (91 hom., cov: 31)
  • Exomes 𝑓: 0.014 (139 hom.)
• Consequence: STRN NM_003162.4 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -2.30

Genes affected

STRN (HGNC:11424): (striatin) Enables armadillo repeat domain binding activity; estrogen receptor binding activity; and protein phosphatase 2A binding activity. Involved in Wnt signaling pathway and negative regulation of cell population proliferation. Located in bicellular tight junction. Part of FAR/SIN/STRIPAK complex. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BP6: Variant 2-36851211-G-A is Benign according to our data. Variant chr2-36851211-G-A is described in ClinVar as [Benign]. Clinvar id is 1262898.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0625 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
STRN	NM_003162.4	c.1979-104C>T		intron_variant		ENST00000263918.9
STRN	XM_005264519.6	c.1868-104C>T		intron_variant
STRN	XM_011533073.3	c.2066-104C>T		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
STRN	ENST00000263918.9	c.1979-104C>T		intron_variant		1	NM_003162.4	P1

Frequencies

GnomAD3 genomes AF: 0.0279 AC: 4241 AN: 152108 Hom.: 90 Cov.: 31

Gnomad AFR AF: 0.0646

Gnomad AMI AF: 0.0603

Gnomad AMR AF: 0.0175

Gnomad ASJ AF: 0.00288

Gnomad EAS AF: 0.000962

Gnomad SAS AF: 0.0112

Gnomad FIN AF: 0.0222

Gnomad MID AF: 0.0127

Gnomad NFE AF: 0.0131

Gnomad OTH AF: 0.0196

GnomAD4 exome AF: 0.0142 AC: 12054 AN: 851300 Hom.: 139 AF XY: 0.0139 AC XY: 6074 AN XY: 435730

Gnomad4 AFR exome AF: 0.0694

Gnomad4 AMR exome AF: 0.0100

Gnomad4 ASJ exome AF: 0.00192

Gnomad4 EAS exome AF: 0.000586

Gnomad4 SAS exome AF: 0.0103

Gnomad4 FIN exome AF: 0.0211

Gnomad4 NFE exome AF: 0.0135

Gnomad4 OTH exome AF: 0.0164

GnomAD4 genome AF: 0.0279 AC: 4252 AN: 152226 Hom.: 91 Cov.: 31 AF XY: 0.0270 AC XY: 2013 AN XY: 74428

Gnomad4 AFR AF: 0.0646

Gnomad4 AMR AF: 0.0176

Gnomad4 ASJ AF: 0.00288

Gnomad4 EAS AF: 0.000965

Gnomad4 SAS AF: 0.0116

Gnomad4 FIN AF: 0.0222

Gnomad4 NFE AF: 0.0131

Gnomad4 OTH AF: 0.0194

Alfa AF: 0.0221 Hom.: 9

Bravo AF: 0.0303

Asia WGS AF: 0.00808 AC: 28 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

May 16, 2021

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Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
Cadd	Benign	0.035
Dann	Benign	0.48

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: rs28593131; hg19: chr2-37078354;