NM_000257.4(MYH7):c.1275_1282del (p.Ala426fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 30, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003332294.1

Allele description [Variation Report for NM_000257.4(MYH7):c.1275_1282del (p.Ala426fs)]

NM_000257.4(MYH7):c.1275_1282del (p.Ala426fs)

Gene:

MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.1275_1282del (p.Ala426fs)

HGVS:

NC_000014.9:g.23429086_23429093del
NG_007884.1:g.11575_11582del
NM_000257.2:c.1275_1282del
NM_000257.4:c.1275_1282delMANE SELECT
NP_000248.2:p.Ala426fs
LRG_384t1:c.1275_1282del
LRG_384:g.11575_11582del
NC_000014.8:g.23898289_23898296del
NC_000014.8:g.23898295_23898302del
NM_000257.3:c.1275_1282del

Protein change:

A426fs

Links:

dbSNP: rs1892815450

NCBI 1000 Genomes Browser:

rs1892815450

Molecular consequence:

NM_000257.4:c.1275_1282del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

qh08b12.x1 Soares_NFL_T_GBC_S1 Homo sapiens cDNA clone IMAGE:1844063 3', mRNA se...
qh08b12.x1 Soares_NFL_T_GBC_S1 Homo sapiens cDNA clone IMAGE:1844063 3', mRNA sequence
gi|3784524|gnl|dbEST|1986445|gb|AI2 .1|

Nucleotide
AGENCOURT_74301828 NICHD_XGC_limb_m Xenopus laevis cDNA clone IMAGE:8533173 5', ...
AGENCOURT_74301828 NICHD_XGC_limb_m Xenopus laevis cDNA clone IMAGE:8533173 5', mRNA sequence
gi|92073515|gnl|dbEST|38003826|gb|E 85.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004040376	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Mar 30, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004040376

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Mar 30, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV004040376.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine