17-7343920-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014716.4(ACAP1):āc.633C>Gā(p.Ser211Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000809 in 1,606,492 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. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014716.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ACAP1 | NM_014716.4 | c.633C>G | p.Ser211Arg | missense_variant | 8/22 | ENST00000158762.8 | NP_055531.1 | |
ACAP1 | XM_047437150.1 | c.411C>G | p.Ser137Arg | missense_variant | 8/22 | XP_047293106.1 | ||
ACAP1 | XM_047437151.1 | c.411C>G | p.Ser137Arg | missense_variant | 7/21 | XP_047293107.1 | ||
ACAP1 | XM_047437152.1 | c.633C>G | p.Ser211Arg | missense_variant | 8/18 | XP_047293108.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACAP1 | ENST00000158762.8 | c.633C>G | p.Ser211Arg | missense_variant | 8/22 | 1 | NM_014716.4 | ENSP00000158762 | P1 | |
ACAP1 | ENST00000570457.6 | c.411C>G | p.Ser137Arg | missense_variant | 8/8 | 5 | ENSP00000458173 | |||
ACAP1 | ENST00000571220.1 | n.733C>G | non_coding_transcript_exon_variant | 3/5 | 2 | |||||
ACAP1 | ENST00000573893.5 | n.482C>G | non_coding_transcript_exon_variant | 5/6 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000173 AC: 4AN: 231058Hom.: 0 AF XY: 0.00000797 AC XY: 1AN XY: 125416
GnomAD4 exome AF: 0.00000413 AC: 6AN: 1454344Hom.: 0 Cov.: 35 AF XY: 0.00000138 AC XY: 1AN XY: 723058
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152148Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 02, 2022 | The c.633C>G (p.S211R) alteration is located in exon 8 (coding exon 8) of the ACAP1 gene. This alteration results from a C to G substitution at nucleotide position 633, causing the serine (S) at amino acid position 211 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at