NM_014053.4(FLVCR1):c.1097AAG[1] (p.Glu367del) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Nov 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001243687.2

Allele description [Variation Report for NM_014053.4(FLVCR1):c.1097AAG[1] (p.Glu367del)]

NM_014053.4(FLVCR1):c.1097AAG[1] (p.Glu367del)

Gene:
FLVCR1:FLVCR heme transporter 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1q32.3
Genomic location:
Preferred name:
NM_014053.4(FLVCR1):c.1097AAG[1] (p.Glu367del)
HGVS:
  • NC_000001.11:g.212885297AAG[1]
  • NG_028131.1:g.32043AAG[1]
  • NM_014053.4:c.1097AAG[1]MANE SELECT
  • NP_054772.1:p.Glu367del
  • NC_000001.10:g.213058637_213058639del
  • NC_000001.10:g.213058639AAG[1]
  • NM_014053.3:c.1100_1102del
Protein change:
E367del
Links:
Molecular consequence:
  • NM_014053.4:c.1097AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001416860Invitaecriteria provided, single submitter
Uncertain significance
(Nov 1, 2019)
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, SCV001416860.2

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

Description

This variant, c.1100_1102del, results in the deletion of 1 amino acid(s) of the FLVCR1 protein (p.Glu367del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760802982, ExAC 0.009%). This variant has not been reported in the literature in individuals with FLVCR1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 22, 2021

Support Center