NM_000153.4(GALC):c.1191A>G (p.Pro397=) AND not provided

Clinical significance:Likely benign (Last evaluated: Jan 19, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000871119.1

Allele description [Variation Report for NM_000153.4(GALC):c.1191A>G (p.Pro397=)]

NM_000153.4(GALC):c.1191A>G (p.Pro397=)

Gene:
GALC:galactosylceramidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q31.3
Genomic location:
Preferred name:
NM_000153.4(GALC):c.1191A>G (p.Pro397=)
HGVS:
  • NC_000014.9:g.87950719T>C
  • NG_011853.2:g.47845A>G
  • NG_011853.3:g.47845A>G
  • NM_000153.4:c.1191A>GMANE SELECT
  • NM_001201401.1:c.1122A>G
  • NM_001201402.1:c.1113A>G
  • NP_000144.2:p.Pro397=
  • NP_001188330.1:p.Pro374=
  • NP_001188331.1:p.Pro371=
  • NC_000014.8:g.88417063T>C
  • NM_000153.3:c.1191A>G
Links:
dbSNP: rs376181222
NCBI 1000 Genomes Browser:
rs376181222
Molecular consequence:
  • NM_000153.4:c.1191A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001201401.1:c.1122A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001201402.1:c.1113A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001012724Invitaecriteria provided, single submitter
Likely benign
(Jan 19, 2018)
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, SCV001012724.1

#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: Jun 14, 2021

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