rs150290042
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_172245.4(CSF2RA):c.997G>A(p.Val333Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000366 in 1,613,180 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 283 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin ClinVar. Synonymous variant affecting the same amino acid position (i.e. V333V) has been classified as Benign.
Frequency
Consequence
NM_172245.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CSF2RA | NM_172245.4 | c.997G>A | p.Val333Met | missense_variant | 11/13 | ENST00000381529.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CSF2RA | ENST00000381529.9 | c.997G>A | p.Val333Met | missense_variant | 11/13 | 1 | NM_172245.4 | A2 |
Frequencies
GnomAD3 genomes AF: 0.00174 AC: 264AN: 151412Hom.: 0 Cov.: 31 AF XY: 0.00180 AC XY: 133AN XY: 73854
GnomAD3 exomes AF: 0.000406 AC: 102AN: 251182Hom.: 0 AF XY: 0.000317 AC XY: 43AN XY: 135744
GnomAD4 exome AF: 0.000224 AC: 327AN: 1461650Hom.: 0 Cov.: 30 AF XY: 0.000206 AC XY: 150AN XY: 727128
GnomAD4 genome AF: 0.00174 AC: 264AN: 151530Hom.: 0 Cov.: 31 AF XY: 0.00180 AC XY: 133AN XY: 73982
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Feb 21, 2013 | Val333Met in exon 12 of CSF2RA: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (24/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs150290042). - |
Surfactant metabolism dysfunction, pulmonary, 4 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at