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NM_001382347.1(MYO5A):c.1958C>T (p.Thr653Ile) AND Griscelli syndrome type 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 7, 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:
RCV003388876.1

Allele description [Variation Report for NM_001382347.1(MYO5A):c.1958C>T (p.Thr653Ile)]

NM_001382347.1(MYO5A):c.1958C>T (p.Thr653Ile)

Gene:
MYO5A:myosin VA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.2
Genomic location:
Preferred name:
NM_001382347.1(MYO5A):c.1958C>T (p.Thr653Ile)
HGVS:
  • NC_000015.10:g.52383145G>A
  • NG_009887.1:g.150906C>T
  • NM_000259.3:c.1958C>T
  • NM_001142495.2:c.1958C>T
  • NM_001382347.1:c.1958C>TMANE SELECT
  • NM_001382348.1:c.2030C>T
  • NM_001382349.1:c.2030C>T
  • NM_001411135.1:c.1958C>T
  • NP_000250.3:p.Thr653Ile
  • NP_001135967.2:p.Thr653Ile
  • NP_001369276.1:p.Thr653Ile
  • NP_001369277.1:p.Thr677Ile
  • NP_001369278.1:p.Thr677Ile
  • NP_001398064.1:p.Thr653Ile
  • LRG_86t1:c.1958C>T
  • LRG_86:g.150906C>T
  • LRG_86p1:p.Thr653Ile
  • NC_000015.9:g.52675342G>A
Protein change:
T653I
Molecular consequence:
  • NM_000259.3:c.1958C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142495.2:c.1958C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382347.1:c.1958C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382348.1:c.2030C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382349.1:c.2030C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001411135.1:c.1958C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Griscelli syndrome type 1 (GS1)
Synonyms:
Griscelli syndrome with neurologic impairment; Partial albinism and primary neurologic disease without hemophagocytic syndrome; Pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008962; MedGen: C1859194; Orphanet: 381; Orphanet: 79476; OMIM: 214450

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004100739Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 7, 2022) 		inheritedclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV004100739.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Criteria applied: PM2_SUP,PM3_SUP,PP2,PP3

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

Last Updated: Nov 4, 2023