Variant chr9-133518513-T-C details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1

The NM_001080483.3(MYMK):c.399+361A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.252 in 152,240 control chromosomes in the GnomAD database, including 5,220 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

Frequency

Genomes: 𝑓 0.25 ( 5220 hom., cov: 33)

Consequence

MYMK
NM_001080483.3 intron

Scores

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: -0.719

Variant links:

Genes affected

MYMK (HGNC:33778): (myomaker, myoblast fusion factor) Involved in myoblast fusion. Located in plasma membrane. Implicated in Carey-Fineman-Ziter syndrome. [provided by Alliance of Genome Resources, Apr 2022]

MYMK links:

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -14 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.87).

BP6

Variant 9-133518513-T-C is Benign according to our data. Variant chr9-133518513-T-C is described in ClinVar as [Benign]. Clinvar id is 1269016.Status of the report is criteria_provided_single_submitter, 1 stars.

BA1

GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.286 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
MYMK	NM_001080483.3 linkuse as main transcript	c.399+361A>G		intron_variant		ENST00000339996.4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
MYMK	ENST00000339996.4 linkuse as main transcript	c.399+361A>G		intron_variant		2	NM_001080483.3	P1
MYMK	ENST00000413714.1 linkuse as main transcript	n.454+361A>G		intron_variant, non_coding_transcript_variant		3

Frequencies

GnomAD3 genomes

AF:

0.252

AC:

38397

AN:

152122

Hom.:

5224

Cov.:

show subpopulations

Gnomad AFR

AF:

0.254

Gnomad AMI

AF:

0.389

Gnomad AMR

AF:

0.237

Gnomad ASJ

AF:

0.201

Gnomad EAS

AF:

0.0341

Gnomad SAS

AF:

0.0656

Gnomad FIN

AF:

0.227

Gnomad MID

AF:

0.177

Gnomad NFE

AF:

0.290

Gnomad OTH

AF:

0.277

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

GnomAD4 genome

AF:

0.252

AC:

38416

AN:

152240

Hom.:

5220

Cov.:

AF XY:

0.246

AC XY:

18293

AN XY:

74440

show subpopulations

Gnomad4 AFR

AF:

0.253

Gnomad4 AMR

AF:

0.237

Gnomad4 ASJ

AF:

0.201

Gnomad4 EAS

AF:

0.0342

Gnomad4 SAS

AF:

0.0652

Gnomad4 FIN

AF:

0.227

Gnomad4 NFE

AF:

0.290

Gnomad4 OTH

AF:

0.273

Alfa

AF:

0.275

Hom.:

1186

Bravo

AF:

0.258

Asia WGS

AF:

0.0890

AC:

310

AN:

3478

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

GeneDx

Dec 19, 2019

- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.87

CADD

Benign

0.30

DANN

Benign

0.57

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