chr7-92343060-C-G
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PP2BP4_Moderate
The NM_019004.2(ANKIB1):c.824C>G(p.Ser275Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000496 in 1,613,750 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 (★).
Frequency
Consequence
NM_019004.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANKIB1 | NM_019004.2 | c.824C>G | p.Ser275Cys | missense_variant | 6/20 | ENST00000265742.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKIB1 | ENST00000265742.8 | c.824C>G | p.Ser275Cys | missense_variant | 6/20 | 1 | NM_019004.2 | P1 | |
ANKIB1 | ENST00000439883.1 | c.*230C>G | 3_prime_UTR_variant, NMD_transcript_variant | 5/5 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152070Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000803 AC: 2AN: 249170Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135158
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461680Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727124
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152070Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74286
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 14, 2023 | The c.824C>G (p.S275C) alteration is located in exon 6 (coding exon 5) of the ANKIB1 gene. This alteration results from a C to G substitution at nucleotide position 824, causing the serine (S) at amino acid position 275 to be replaced by a cysteine (C). 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