NM_000257.4(MYH7):c.4948T>C (p.Leu1650=) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 1, 2022
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:: RCV002070284.18

Allele description [Variation Report for NM_000257.4(MYH7):c.4948T>C (p.Leu1650=)]

NM_000257.4(MYH7):c.4948T>C (p.Leu1650=)

Genes:

LOC126861897:BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 [Gene]
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.4948T>C (p.Leu1650=)

HGVS:

NC_000014.9:g.23416009A>G
NG_007884.1:g.24653T>C
NM_000257.4:c.4948T>CMANE SELECT
NP_000248.2:p.Leu1650=
LRG_384:g.24653T>C
NC_000014.8:g.23885218A>G
NR_126491.1:n.270A>G

Links:

dbSNP: rs1342070817

NCBI 1000 Genomes Browser:

rs1342070817

Molecular consequence:

NR_126491.1:n.270A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000257.4:c.4948T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens microtubule associated protein 2 (MAP2), transcript variant 1, mRNA
Homo sapiens microtubule associated protein 2 (MAP2), transcript variant 1, mRNA
gi|1770726286|ref|NM_002374.4|

Nucleotide
daj37h06.y1 NICHD_XGC_OO1 Xenopus laevis cDNA clone IMAGE:5078651 5' similar to ...
daj37h06.y1 NICHD_XGC_OO1 Xenopus laevis cDNA clone IMAGE:5078651 5' similar to TR:Q9VQF5 Q9VQF5 CG2843 PROTEIN, mRNA sequence
gi|16439649|gnl|dbEST|10021971|gb|B 75.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002497695	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Feb 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002497695

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Feb 1, 2022)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV002497695.18

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

#	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		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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