NM_014053.4(FLVCR1):c.178_179delinsAT (p.Ala60Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 7, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001321735.1

Allele description [Variation Report for NM_014053.4(FLVCR1):c.178_179delinsAT (p.Ala60Ile)]

NM_014053.4(FLVCR1):c.178_179delinsAT (p.Ala60Ile)

Gene:
FLVCR1:FLVCR heme transporter 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1q32.3
Genomic location:
Preferred name:
NM_014053.4(FLVCR1):c.178_179delinsAT (p.Ala60Ile)
HGVS:
  • NC_000001.11:g.212858630_212858631delinsAT
  • NG_028131.1:g.5376_5377delinsAT
  • NM_014053.4:c.178_179delinsATMANE SELECT
  • NP_054772.1:p.Ala60Ile
  • NC_000001.10:g.213031972_213031973delinsAT
Protein change:
A60I
Molecular consequence:
  • NM_014053.4:c.178_179delinsAT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001512579Invitaecriteria provided, single submitter
Uncertain significance
(May 7, 2020)
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, SCV001512579.1

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

Description

This sequence change replaces alanine with isoleucine at codon 60 of the FLVCR1 protein (p.Ala60Ile). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and isoleucine. 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 variant has not been reported in the literature in individuals with FLVCR1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Not Available; PolyPhen-2: Benign; Align-GVGD: Not Available). 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.

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

Last Updated: Mar 17, 2021

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