rs1800944
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001394783.1(CCR5):āc.1004C>Gā(p.Ala335Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000436 in 1,607,242 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A335V) has been classified as Benign.
Frequency
Consequence
NM_001394783.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCR5 | NM_001394783.1 | c.1004C>G | p.Ala335Gly | missense_variant | 2/2 | ENST00000292303.5 | |
CCR5AS | NR_125406.1 | n.392-2489G>C | intron_variant, non_coding_transcript_variant | ||||
CCR5 | NM_000579.4 | c.1004C>G | p.Ala335Gly | missense_variant | 3/3 | ||
CCR5 | NM_001100168.2 | c.1004C>G | p.Ala335Gly | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCR5 | ENST00000292303.5 | c.1004C>G | p.Ala335Gly | missense_variant | 2/2 | 1 | NM_001394783.1 | P1 | |
CCR5AS | ENST00000701879.1 | n.174-2489G>C | intron_variant, non_coding_transcript_variant | ||||||
CCR5 | ENST00000445772.1 | c.1004C>G | p.Ala335Gly | missense_variant | 1/1 | P1 | |||
CCR5AS | ENST00000451485.2 | n.392-2489G>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000818 AC: 2AN: 244606Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 131888
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1455030Hom.: 0 Cov.: 32 AF XY: 0.00000415 AC XY: 3AN XY: 723114
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152212Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at