Variant 10-50843994-A-G details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2

The NM_014576.4(A1CF):c.228T>C(p.Cys76=) variant causes a synonymous change. The variant allele was found at a frequency of 0.00764 in 1,613,162 control chromosomes in the GnomAD database, including 72 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

Frequency

Genomes: 𝑓 0.0045 ( 1 hom., cov: 32)

Exomes 𝑓: 0.0080 ( 71 hom. )

Consequence

A1CF
NM_014576.4 synonymous

Scores

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: 4.20

Variant links:

Genes affected

A1CF (HGNC:24086): (APOBEC1 complementation factor) Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

A1CF links:

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -10 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.5).

BP6

Variant 10-50843994-A-G is Benign according to our data. Variant chr10-50843994-A-G is described in ClinVar as [Benign]. Clinvar id is 781673.Status of the report is criteria_provided_single_submitter, 1 stars.

BS2

High Homozygotes in GnomAdExome4 at 71 AR gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
A1CF	NM_014576.4 linkuse as main transcript	c.228T>C	p.Cys76=	synonymous_variant	4/13	ENST00000373997.8

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
A1CF	ENST00000373997.8 linkuse as main transcript	c.228T>C	p.Cys76=	synonymous_variant	4/13	1	NM_014576.4	A1	Q9NQ94-2

Frequencies

GnomAD3 genomes

AF:

0.00446

AC:

678

AN:

152174

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.00130

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.00137

Gnomad ASJ

AF:

0.000865

Gnomad EAS

AF:

0.000192

Gnomad SAS

AF:

0.00644

Gnomad FIN

AF:

0.00141

Gnomad MID

AF:

0.00316

Gnomad NFE

AF:

0.00809

Gnomad OTH

AF:

0.000956

GnomAD3 exomes

AF:

0.00517

AC:

1293

AN:

250222

Hom.:

AF XY:

0.00558

AC XY:

755

AN XY:

135268

show subpopulations

Gnomad AFR exome

AF:

0.00162

Gnomad AMR exome

AF:

0.00119

Gnomad ASJ exome

AF:

0.000796

Gnomad EAS exome

AF:

0.00

Gnomad SAS exome

AF:

0.00912

Gnomad FIN exome

AF:

0.00148

Gnomad NFE exome

AF:

0.00781

Gnomad OTH exome

AF:

0.00410

GnomAD4 exome

AF:

0.00797

AC:

11642

AN:

1460870

Hom.:

Cov.:

AF XY:

0.00802

AC XY:

5826

AN XY:

726678

show subpopulations

Gnomad4 AFR exome

AF:

0.00129

Gnomad4 AMR exome

AF:

0.00117

Gnomad4 ASJ exome

AF:

0.000651

Gnomad4 EAS exome

AF:

0.00

Gnomad4 SAS exome

AF:

0.00984

Gnomad4 FIN exome

AF:

0.00234

Gnomad4 NFE exome

AF:

0.00917

Gnomad4 OTH exome

AF:

0.00588

GnomAD4 genome

AF:

0.00445

AC:

678

AN:

152292

Hom.:

Cov.:

AF XY:

0.00407

AC XY:

303

AN XY:

74470

show subpopulations

Gnomad4 AFR

AF:

0.00130

Gnomad4 AMR

AF:

0.00137

Gnomad4 ASJ

AF:

0.000865

Gnomad4 EAS

AF:

0.000193

Gnomad4 SAS

AF:

0.00644

Gnomad4 FIN

AF:

0.00141

Gnomad4 NFE

AF:

0.00809

Gnomad4 OTH

AF:

0.000946

Alfa

AF:

0.00604

Hom.:

Bravo

AF:

0.00438

Asia WGS

AF:

0.00202

AC:

AN:

3478

EpiCase

AF:

0.00857

EpiControl

AF:

0.00689

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

LINK: link

Submissions by phenotype

not provided

Benign:1

Benign, criteria provided, single submitter

clinical testing

Invitae

Jun 14, 2018

- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.50

CADD

Benign

DANN

Benign

0.68

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