NM_002049.4:c.212A>C
Variant summary
Our verdict is Benign. The variant received -9 ACMG points: 2P and 11B. PM1BP4BP6_ModerateBS1BS2
The NM_002049.4(GATA1):c.212A>C(p.His71Pro) variant causes a missense change. The variant allele was found at a frequency of 0.0000626 in 1,197,474 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 23 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H71Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_002049.4 missense
Scores
Clinical Significance
Conservation
Publications
- GATA1-Related X-Linked CytopeniaInheritance: XL Classification: DEFINITIVE Submitted by: ClinGen
- thrombocytopenia, X-linked, with or without dyserythropoietic anemiaInheritance: XL Classification: STRONG, MODERATE Submitted by: Genomics England PanelApp, Labcorp Genetics (formerly Invitae)
- beta-thalassemia-X-linked thrombocytopenia syndromeInheritance: XL Classification: MODERATE, SUPPORTIVE Submitted by: Ambry Genetics, Orphanet
- Diamond-Blackfan anemiaInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- cutaneous porphyriaInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
- thrombocytopenia with congenital dyserythropoietic anemiaInheritance: XL Classification: SUPPORTIVE Submitted by: Orphanet
- X-linked dyserythropoetic anemia with abnormal platelets and neutropeniaInheritance: XL Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Benign. The variant received -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000539 AC: 6AN: 111415Hom.: 0 Cov.: 22 show subpopulations
GnomAD2 exomes AF: 0.0000687 AC: 11AN: 160056 AF XY: 0.0000989 show subpopulations
GnomAD4 exome AF: 0.0000635 AC: 69AN: 1086007Hom.: 0 Cov.: 31 AF XY: 0.0000594 AC XY: 21AN XY: 353769 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000538 AC: 6AN: 111467Hom.: 0 Cov.: 22 AF XY: 0.0000592 AC XY: 2AN XY: 33779 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
Diamond-Blackfan anemia;C1845837:GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at