NM_000137.4(FAH):c.243G>A (p.Ala81=) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Jun 13, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000724789.4

Allele description [Variation Report for NM_000137.4(FAH):c.243G>A (p.Ala81=)]

NM_000137.4(FAH):c.243G>A (p.Ala81=)

Gene:
FAH:fumarylacetoacetate hydrolase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q25.1
Genomic location:
Preferred name:
NM_000137.4(FAH):c.243G>A (p.Ala81=)
HGVS:
  • NC_000015.10:g.80159806G>A
  • NG_012833.1:g.11808G>A
  • NM_000137.3:c.243G>A
  • NM_000137.4:c.243G>AMANE SELECT
  • NM_001374377.1:c.243G>A
  • NM_001374380.1:c.243G>A
  • NP_000128.1:p.Ala81=
  • NP_000128.1:p.Ala81=
  • NP_001361306.1:p.Ala81=
  • NP_001361309.1:p.Ala81=
  • NC_000015.9:g.80452148G>A
  • NM_000137.2:c.243G>A
Links:
dbSNP: rs36122289
NCBI 1000 Genomes Browser:
rs36122289
Molecular consequence:
  • NM_000137.3:c.243G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000137.4:c.243G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374377.1:c.243G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374380.1:c.243G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
8

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000228789EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jun 29, 2017)
germlineclinical testing

Citation Link,

SCV000525447GeneDxcriteria provided, single submitter
Likely benign
(Jun 13, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown8not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000228789.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided8not providednot providednot provided

From GeneDx, SCV000525447.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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