NM_005379.4(MYO1A):c.2291G>T (p.Arg764Leu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 26, 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:: RCV004340025.1

Allele description [Variation Report for NM_005379.4(MYO1A):c.2291G>T (p.Arg764Leu)]

NM_005379.4(MYO1A):c.2291G>T (p.Arg764Leu)

Gene:

MYO1A:myosin IA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.3

Genomic location:

Preferred name:

NM_005379.4(MYO1A):c.2291G>T (p.Arg764Leu)

HGVS:

NC_000012.12:g.57036365C>A
NG_012104.1:g.18745G>T
NG_012104.2:g.19833G>T
NM_001256041.2:c.2291G>T
NM_005379.4:c.2291G>TMANE SELECT
NP_001242970.1:p.Arg764Leu
NP_005370.1:p.Arg764Leu
NC_000012.11:g.57430149C>A
NM_005379.2:c.2291G>T

Protein change:

R764L

Molecular consequence:

NM_001256041.2:c.2291G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_005379.4:c.2291G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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G_PROTEIN_RECEP_F1_2 domain-containing protein [Caenorhabditis elegans]
G_PROTEIN_RECEP_F1_2 domain-containing protein [Caenorhabditis elegans]
gi|392925780|ref|NP_001257006.1|

Protein
Caenorhabditis elegans Uncharacterized protein (F01G10.4), mRNA
Caenorhabditis elegans Uncharacterized protein (F01G10.4), mRNA
gi|1845976163|ref|NM_069473.4|

Nucleotide
Micropterus treculii voucher INHS 40486, YFTC 402 ENC1 gene, partial cds
Micropterus treculii voucher INHS 40486, YFTC 402 ENC1 gene, partial cds
gi|2027996479|gb|MW252402.1|

Nucleotide
Poly(U)-binding-splicing factor rnp-6 [Caenorhabditis elegans]
Poly(U)-binding-splicing factor rnp-6 [Caenorhabditis elegans]
gi|373220166|emb|CCD72566.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004063733	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 26, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004063733

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 26, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004063733.2

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

Description

The c.2291G>T (p.R764L) alteration is located in exon 22 (coding exon 21) of the MYO1A gene. This alteration results from a G to T substitution at nucleotide position 2291, causing the arginine (R) at amino acid position 764 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024

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