NM_004990.4(MARS1):c.1753+7A>G AND multiple conditions

Clinical significance:Benign (Last evaluated: Dec 31, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001082355.1

Allele description [Variation Report for NM_004990.4(MARS1):c.1753+7A>G]

NM_004990.4(MARS1):c.1753+7A>G

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.1753+7A>G
HGVS:
  • NC_000012.12:g.57512360A>G
  • NG_034077.1:g.29408A>G
  • NM_004990.4:c.1753+7A>GMANE SELECT
  • NC_000012.11:g.57906143A>G
  • NM_004990.3:c.1753+7A>G
Links:
dbSNP: rs117914586
NCBI 1000 Genomes Browser:
rs117914586
Molecular consequence:
  • NM_004990.4:c.1753+7A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Interstitial lung and liver disease (ILLD)
Synonyms:
PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND
Identifiers:
MONDO: MONDO:0014206; MedGen: C4225400; OMIM: 615486
Name:
Charcot-Marie-Tooth disease, axonal, type 2u (CMT2U)
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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000655626Invitaecriteria provided, single submitter
Benign
(Dec 31, 2019)
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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000655626.4

#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: Nov 27, 2021

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