Variant rs2229741 details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1

The NM_003489.4(NRIP1):c.225G>A(p.Gly75=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.458 in 1,613,378 control chromosomes in the GnomAD database, including 176,315 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

Frequency

Genomes: 𝑓 0.53 ( 23322 hom., cov: 32)

Exomes 𝑓: 0.45 ( 152993 hom. )

Consequence

NRIP1
NM_003489.4 synonymous

Scores

Clinical Significance

Benign criteria provided, multiple submitters, no conflicts B:3

Conservation

PhyloP100: 0.974

Variant links:

Genes affected

NRIP1 (HGNC:8001): (nuclear receptor interacting protein 1) Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen receptor. [provided by RefSeq, Jul 2008]

NRIP1 links:

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -21 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.56).

BP6

Variant 21-14967968-C-T is Benign according to our data. Variant chr21-14967968-C-T is described in ClinVar as [Benign]. Clinvar id is 1326992.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.

BP7

Synonymous conserved (PhyloP=0.974 with no splicing effect.

BA1

GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.766 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
NRIP1	NM_003489.4 linkuse as main transcript	c.225G>A	p.Gly75=	synonymous_variant	4/4	ENST00000318948.7	NP_003480.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris
NRIP1	ENST00000318948.7 linkuse as main transcript	c.225G>A	p.Gly75=	synonymous_variant	4/4	2	NM_003489.4	ENSP00000327213	P1
NRIP1	ENST00000400199.5 linkuse as main transcript	c.225G>A	p.Gly75=	synonymous_variant	3/3	3		ENSP00000383060	P1
NRIP1	ENST00000400202.5 linkuse as main transcript	c.225G>A	p.Gly75=	synonymous_variant	3/3	5		ENSP00000383063	P1
NRIP1	ENST00000411932.1 linkuse as main transcript			downstream_gene_variant		3		ENSP00000412114

Frequencies

GnomAD3 genomes

AF:

0.535

AC:

81200

AN:

151870

Hom.:

23296

Cov.:

show subpopulations

Gnomad AFR

AF:

0.731

Gnomad AMI

AF:

0.323

Gnomad AMR

AF:

0.559

Gnomad ASJ

AF:

0.430

Gnomad EAS

AF:

0.786

Gnomad SAS

AF:

0.438

Gnomad FIN

AF:

0.433

Gnomad MID

AF:

0.468

Gnomad NFE

AF:

0.422

Gnomad OTH

AF:

0.520

GnomAD3 exomes

AF:

0.502

AC:

125512

AN:

249950

Hom.:

33566

AF XY:

0.489

AC XY:

66061

AN XY:

135052

show subpopulations

Gnomad AFR exome

AF:

0.739

Gnomad AMR exome

AF:

0.605

Gnomad ASJ exome

AF:

0.430

Gnomad EAS exome

AF:

0.797

Gnomad SAS exome

AF:

0.447

Gnomad FIN exome

AF:

0.438

Gnomad NFE exome

AF:

0.425

Gnomad OTH exome

AF:

0.463

GnomAD4 exome

AF:

0.450

AC:

656994

AN:

1461392

Hom.:

152993

Cov.:

AF XY:

0.448

AC XY:

325433

AN XY:

726962

show subpopulations

Gnomad4 AFR exome

AF:

0.740

Gnomad4 AMR exome

AF:

0.598

Gnomad4 ASJ exome

AF:

0.424

Gnomad4 EAS exome

AF:

0.800

Gnomad4 SAS exome

AF:

0.448

Gnomad4 FIN exome

AF:

0.441

Gnomad4 NFE exome

AF:

0.423

Gnomad4 OTH exome

AF:

0.460

GnomAD4 genome

AF:

0.535

AC:

81280

AN:

151986

Hom.:

23322

Cov.:

AF XY:

0.537

AC XY:

39867

AN XY:

74250

show subpopulations

Gnomad4 AFR

AF:

0.731

Gnomad4 AMR

AF:

0.560

Gnomad4 ASJ

AF:

0.430

Gnomad4 EAS

AF:

0.787

Gnomad4 SAS

AF:

0.437

Gnomad4 FIN

AF:

0.433

Gnomad4 NFE

AF:

0.422

Gnomad4 OTH

AF:

0.525

Alfa

AF:

0.453

Hom.:

40102

Bravo

AF:

0.559

Asia WGS

AF:

0.608

AC:

2113

AN:

3478

EpiCase

AF:

0.426

EpiControl

AF:

0.422

ClinVar

Significance: Benign

Submissions summary: Benign:3

Revision: criteria provided, multiple submitters, no conflicts

LINK: link

Submissions by phenotype

not provided

Benign:2

Benign, criteria provided, single submitter	not provided	Breakthrough Genomics, Breakthrough Genomics	-	- -
Benign, criteria provided, single submitter	clinical testing	Labcorp Genetics (formerly Invitae), Labcorp	Jan 30, 2024	- -

Congenital anomalies of kidney and urinary tract 3

Benign:1

Benign, criteria provided, single submitter

clinical testing

Genome-Nilou Lab

Sep 05, 2021

- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.56

CADD

Benign

5.1

DANN

Benign

0.78

RBP_binding_hub_radar

0.0

RBP_regulation_power_radar

1.7

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

Below is the list of publications found by LitVar. It may be empty.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

LitVar

Other links and lift over