5-434607-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001377236.1(AHRR):āc.1867G>Cā(p.Asp623His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.355 in 1,565,030 control chromosomes in the GnomAD database, including 108,152 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001377236.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AHRR | NM_001377236.1 | c.1867G>C | p.Asp623His | missense_variant | Exon 11 of 11 | ENST00000684583.1 | NP_001364165.1 | |
AHRR | NM_001377239.1 | c.1867G>C | p.Asp623His | missense_variant | Exon 11 of 11 | NP_001364168.1 | ||
PDCD6-AHRR | NR_165159.2 | n.2214G>C | non_coding_transcript_exon_variant | Exon 14 of 14 | ||||
PDCD6-AHRR | NR_165163.2 | n.2160G>C | non_coding_transcript_exon_variant | Exon 13 of 13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AHRR | ENST00000684583.1 | c.1867G>C | p.Asp623His | missense_variant | Exon 11 of 11 | NM_001377236.1 | ENSP00000507476.1 | |||
PDCD6-AHRR | ENST00000675395.1 | n.*1917G>C | non_coding_transcript_exon_variant | Exon 14 of 14 | ENSP00000502570.1 | |||||
PDCD6-AHRR | ENST00000675395.1 | n.*1917G>C | 3_prime_UTR_variant | Exon 14 of 14 | ENSP00000502570.1 |
Frequencies
GnomAD3 genomes AF: 0.267 AC: 40635AN: 152154Hom.: 7067 Cov.: 34
GnomAD3 exomes AF: 0.294 AC: 50016AN: 170282Hom.: 8514 AF XY: 0.295 AC XY: 27018AN XY: 91562
GnomAD4 exome AF: 0.365 AC: 515695AN: 1412758Hom.: 101085 Cov.: 100 AF XY: 0.362 AC XY: 252632AN XY: 698454
GnomAD4 genome AF: 0.267 AC: 40638AN: 152272Hom.: 7067 Cov.: 34 AF XY: 0.263 AC XY: 19606AN XY: 74472
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at