U.S. flag

An official website of the United States government

NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 7, 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:
RCV001057120.7

Allele description [Variation Report for NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr)]

NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr)

Gene:
MARS1:methionyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.3
Genomic location:
Preferred name:
NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr)
HGVS:
  • NC_000012.12:g.57500406G>A
  • NG_034077.1:g.17454G>A
  • NM_004990.4:c.1177G>AMANE SELECT
  • NP_004981.2:p.Ala393Thr
  • NC_000012.11:g.57894189G>A
  • NM_004990.3:c.1177G>A
  • P56192:p.Ala393Thr
Protein change:
A393T
Links:
UniProtKB: P56192#VAR_075362; OMIM: 156560.0007; dbSNP: rs141340466
NCBI 1000 Genomes Browser:
rs141340466
Molecular consequence:
  • NM_004990.4:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Synonyms:
PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND; Interstitial lung and liver disease
Identifiers:
MONDO: MONDO:0014206; MedGen: C4225400; OMIM: 615486
Name:
Charcot-Marie-Tooth disease axonal type 2U
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2U; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U
Identifiers:
MONDO: MONDO:0014566; MedGen: C4084821; Orphanet: 397735; OMIM: 616280

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001221596Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Jul 7, 2023)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001221596.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2024