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NM_002049.4(GATA1):c.1196T>C (p.Met399Thr) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 3, 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:
RCV003792696.3

Allele description [Variation Report for NM_002049.4(GATA1):c.1196T>C (p.Met399Thr)]

NM_002049.4(GATA1):c.1196T>C (p.Met399Thr)

Gene:
GATA1:GATA binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_002049.4(GATA1):c.1196T>C (p.Met399Thr)
HGVS:
  • NC_000023.11:g.48794118T>C
  • NG_008846.2:g.12545T>C
  • NG_070978.1:g.21T>C
  • NM_002049.4:c.1196T>CMANE SELECT
  • NP_002040.1:p.Met399Thr
  • NP_002040.1:p.Met399Thr
  • LRG_559t1:c.1196T>C
  • LRG_559:g.12545T>C
  • LRG_559p1:p.Met399Thr
  • NC_000023.10:g.48652525T>C
  • NM_002049.3:c.1196T>C
Protein change:
M399T
Molecular consequence:
  • NM_002049.4:c.1196T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Diamond-Blackfan anemia
Synonyms:
Blackfan Diamond syndrome; Anemia congenital erythroid hypoplastic; Aregenerative anemia chronic congenital; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015253; MeSH: D029503; MedGen: C1260899; Orphanet: 124; OMIM: PS105650; Human Phenotype Ontology: HP:0004810
Name:
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Synonyms:
GATA1-Related X-Linked Cytopenia
Identifiers:
MONDO: MONDO:0100089; MedGen: C1845837

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004577422Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Mar 3, 2023) 		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, SCV004577422.1

#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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. This variant has not been reported in the literature in individuals affected with GATA1-related conditions. This variant is present in population databases (rs782116095, gnomAD 0.008%), including at least one homozygous and/or hemizygous individual. This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 399 of the GATA1 protein (p.Met399Thr).

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

Last Updated: Sep 29, 2024