Variant 12-6943815-G-A details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1

The ENST00000607421.2(ENSG00000272173):n.816C>T variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0424 in 842,698 control chromosomes in the GnomAD database, including 942 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

Frequency

Genomes: 𝑓 0.034 ( 101 hom., cov: 33)

Exomes 𝑓: 0.044 ( 841 hom. )

Consequence

ENST00000607421.2 non_coding_transcript_exon

Scores

Clinical Significance

Benign criteria provided, multiple submitters, no conflicts B:2

Conservation

PhyloP100: -5.77

Variant links:

Genes affected

(HGNC:):

links:

C12orf57 (HGNC:29521): (chromosome 12 open reading frame 57) This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

C12orf57 links:

RNU7-1 (HGNC:34033): (RNA, U7 small nuclear 1) Implicated in Aicardi-Goutieres syndrome. [provided by Alliance of Genome Resources, Apr 2022]

RNU7-1 links:

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -20 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.69).

BP6

Variant 12-6943815-G-A is Benign according to our data. Variant chr12-6943815-G-A is described in ClinVar as [Benign]. Clinvar id is 1247634.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.

BA1

GnomAdExome4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0506 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	Effect
C12orf57	NM_001301834.1 linkuse as main transcript	c.-16+153G>A	intron_variant
C12orf57	NM_001301836.2 linkuse as main transcript	c.13+153G>A	intron_variant
RNU7-1	NR_023317.1 linkuse as main transcript		upstream_gene_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
	ENST00000607421.2 linkuse as main transcript	n.816C>T		non_coding_transcript_exon_variant	1/1
RNU7-1	ENST00000458811.1 linkuse as main transcript			upstream_gene_variant

Frequencies

GnomAD3 genomes

AF:

0.0336

AC:

5118

AN:

152204

Hom.:

102

Cov.:

show subpopulations

Gnomad AFR

AF:

0.0103

Gnomad AMI

AF:

0.0285

Gnomad AMR

AF:

0.0340

Gnomad ASJ

AF:

0.0735

Gnomad EAS

AF:

0.000192

Gnomad SAS

AF:

0.0110

Gnomad FIN

AF:

0.0316

Gnomad MID

AF:

0.0380

Gnomad NFE

AF:

0.0501

Gnomad OTH

AF:

0.0383

GnomAD4 exome

AF:

0.0443

AC:

30585

AN:

690376

Hom.:

841

Cov.:

AF XY:

0.0427

AC XY:

14801

AN XY:

346968

show subpopulations

Gnomad4 AFR exome

AF:

0.00744

Gnomad4 AMR exome

AF:

0.0305

Gnomad4 ASJ exome

AF:

0.0596

Gnomad4 EAS exome

AF:

0.000693

Gnomad4 SAS exome

AF:

0.0108

Gnomad4 FIN exome

AF:

0.0291

Gnomad4 NFE exome

AF:

0.0511

Gnomad4 OTH exome

AF:

0.0394

GnomAD4 genome

AF:

0.0336

AC:

5115

AN:

152322

Hom.:

101

Cov.:

AF XY:

0.0328

AC XY:

2443

AN XY:

74494

show subpopulations

Gnomad4 AFR

AF:

0.0102

Gnomad4 AMR

AF:

0.0340

Gnomad4 ASJ

AF:

0.0735

Gnomad4 EAS

AF:

0.000193

Gnomad4 SAS

AF:

0.0110

Gnomad4 FIN

AF:

0.0316

Gnomad4 NFE

AF:

0.0501

Gnomad4 OTH

AF:

0.0379

Alfa

AF:

0.0286

Hom.:

Bravo

AF:

0.0332

Asia WGS

AF:

0.00664

AC:

AN:

3478

ClinVar

Significance: Benign

Submissions summary: Benign:2

Revision: criteria provided, multiple submitters, no conflicts

LINK: link

Submissions by phenotype

not provided

Benign:2

Benign, criteria provided, single submitter	clinical testing	GeneDx	Mar 29, 2021	- -
Benign, criteria provided, single submitter	not provided	Breakthrough Genomics, Breakthrough Genomics	-	- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.69

CADD

Benign

0.0010

DANN

Benign

0.65

RBP_binding_hub_radar

0.0

RBP_regulation_power_radar

1.1

Splicing

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