U.S. flag

An official website of the United States government

NM_206965.2(FTCD):c.1234G>A (p.Asp412Asn) AND Glutamate formiminotransferase deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 26, 2023
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:
RCV003873438.2

Allele description [Variation Report for NM_206965.2(FTCD):c.1234G>A (p.Asp412Asn)]

NM_206965.2(FTCD):c.1234G>A (p.Asp412Asn)

Gene:
FTCD:formimidoyltransferase cyclodeaminase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_206965.2(FTCD):c.1234G>A (p.Asp412Asn)
HGVS:
  • NC_000021.9:g.46145443C>T
  • NG_016191.1:g.15125G>A
  • NM_001320412.2:c.1234G>A
  • NM_006657.3:c.1234G>A
  • NM_206965.2:c.1234G>AMANE SELECT
  • NP_001307341.1:p.Asp412Asn
  • NP_006648.1:p.Asp412Asn
  • NP_996848.1:p.Asp412Asn
  • NC_000021.8:g.47565357C>T
Protein change:
D412N
Molecular consequence:
  • NM_001320412.2:c.1234G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006657.3:c.1234G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206965.2:c.1234G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Glutamate formiminotransferase deficiency
Synonyms:
Formiminotransferase deficiency syndrome; Formiminoglutamicaciduria (FIGLU-uria); Formiminoglutamic acidemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009240; MedGen: C0268609; Orphanet: 51208; OMIM: 229100

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
SCV004677697Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Apr 26, 2023)
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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004677697.1

#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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FTCD protein function. This variant has not been reported in the literature in individuals affected with FTCD-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 412 of the FTCD protein (p.Asp412Asn).

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

Last Updated: Sep 29, 2024