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NM_005379.4(MYO1A):c.2723A>C (p.Lys908Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 16, 2024
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:
RCV004649926.1

Allele description [Variation Report for NM_005379.4(MYO1A):c.2723A>C (p.Lys908Thr)]

NM_005379.4(MYO1A):c.2723A>C (p.Lys908Thr)

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.2723A>C (p.Lys908Thr)
HGVS:
  • NC_000012.12:g.57029741T>G
  • NG_012104.1:g.25369A>C
  • NG_012104.2:g.26457A>C
  • NG_125878.1:g.404T>G
  • NM_001256041.2:c.2723A>C
  • NM_005379.4:c.2723A>CMANE SELECT
  • NP_001242970.1:p.Lys908Thr
  • NP_005370.1:p.Lys908Thr
  • NC_000012.11:g.57423525T>G
  • NM_005379.2:c.2723A>C
Protein change:
K908T
Molecular consequence:
  • NM_001256041.2:c.2723A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005379.4:c.2723A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005142468Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 16, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV005142468.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.2723A>C (p.K908T) alteration is located in exon 25 (coding exon 24) of the MYO1A gene. This alteration results from a A to C substitution at nucleotide position 2723, causing the lysine (K) at amino acid position 908 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 11, 2024