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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 21, 2022
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:
RCV003480707.1

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:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004227448Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Apr 21, 2022)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.

Bouhouche A, Tibar H, Kriouale Y, Jiddane M, Smaili I, Bouslam N, Benomar A, Yahyaoui M, El Fahime E.

Case Rep Genet. 2018;2018:8635698. doi: 10.1155/2018/8635698.

PubMed [citation]
PMID:
30581635
PMCID:
PMC6276426

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV004227448.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: May 19, 2024