rs77406754
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The ENST00000649552.2(MS4A4A):c.60-17709G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0162 in 151,974 control chromosomes in the GnomAD database, including 14 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.016 ( 14 hom., cov: 32)
Consequence
MS4A4A
ENST00000649552.2 intron
ENST00000649552.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0760
Genes affected
MS4A4A (HGNC:13371): (membrane spanning 4-domains A4A) This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.91).
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0162 (2459/151974) while in subpopulation NFE AF= 0.0255 (1731/67906). AF 95% confidence interval is 0.0245. There are 14 homozygotes in gnomad4. There are 1114 alleles in male gnomad4 subpopulation. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 14 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MS4A4A | ENST00000649552.2 | c.60-17709G>A | intron_variant | A2 | |||||
MS4A4A | ENST00000679385.1 | c.-24-22681G>A | intron_variant | ||||||
MS4A4A | ENST00000679553.1 | c.60-17709G>A | intron_variant | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0162 AC: 2459AN: 151856Hom.: 14 Cov.: 32
GnomAD3 genomes
?
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2459
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151856
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Cov.:
32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0162 AC: 2459AN: 151974Hom.: 14 Cov.: 32 AF XY: 0.0150 AC XY: 1114AN XY: 74284
GnomAD4 genome
?
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AC:
2459
AN:
151974
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32
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1114
AN XY:
74284
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10
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3476
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at