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NM_000143.4(FH):c.1068_1069delinsAC (p.Ile357Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 21, 2020
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:
RCV003772695.2

Allele description [Variation Report for NM_000143.4(FH):c.1068_1069delinsAC (p.Ile357Leu)]

NM_000143.4(FH):c.1068_1069delinsAC (p.Ile357Leu)

Gene:
FH:fumarate hydratase [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_000143.4(FH):c.1068_1069delinsAC (p.Ile357Leu)
HGVS:
  • NC_000001.11:g.241504081_241504082delinsGT
  • NG_012338.1:g.20673_20674delinsAC
  • NM_000143.4:c.1068_1069delinsACMANE SELECT
  • NP_000134.2:p.Ile357Leu
  • LRG_504:g.20673_20674delinsAC
  • NC_000001.10:g.241667381_241667382delinsGT
Protein change:
I357L
Links:
dbSNP: rs2147916070
NCBI 1000 Genomes Browser:
rs2147916070
Molecular consequence:
  • NM_000143.4:c.1068_1069delinsAC - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002164312Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Nov 21, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002164312.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with FH-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change replaces isoleucine with leucine at codon 357 of the FH protein (p.Ile357Leu). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and leucine.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024