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NM_000137.4(FAH):c.565G>A (p.Val189Ile) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 28, 2016
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:
RCV000592341.4

Allele description [Variation Report for NM_000137.4(FAH):c.565G>A (p.Val189Ile)]

NM_000137.4(FAH):c.565G>A (p.Val189Ile)

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.565G>A (p.Val189Ile)
Other names:
p.Val189Ile
HGVS:
  • NC_000015.10:g.80168275G>A
  • NG_012833.1:g.20277G>A
  • NM_000137.4:c.565G>AMANE SELECT
  • NM_001374377.1:c.565G>A
  • NM_001374380.1:c.565G>A
  • NP_000128.1:p.Val189Ile
  • NP_000128.1:p.Val189Ile
  • NP_001361306.1:p.Val189Ile
  • NP_001361309.1:p.Val189Ile
  • NC_000015.9:g.80460617G>A
  • NM_000137.2:c.565G>A
  • NM_000137.3:c.565G>A
Protein change:
V189I
Links:
dbSNP: rs145389125
NCBI 1000 Genomes Browser:
rs145389125
Molecular consequence:
  • NM_000137.4:c.565G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374377.1:c.565G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374380.1:c.565G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000700711Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Likely benign
(Sep 28, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000700711.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: May 19, 2024