chr7-92327883-C-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_019004.2(ANKIB1):c.770C>G(p.Ala257Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000505 in 1,584,406 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKIB1 | ENST00000265742.8 | c.770C>G | p.Ala257Gly | missense_variant | Exon 5 of 20 | 1 | NM_019004.2 | ENSP00000265742.3 | ||
ANKIB1 | ENST00000439883.1 | n.*176C>G | non_coding_transcript_exon_variant | Exon 4 of 5 | 3 | ENSP00000407913.1 | ||||
ANKIB1 | ENST00000439883.1 | n.*176C>G | 3_prime_UTR_variant | Exon 4 of 5 | 3 | ENSP00000407913.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152132Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1432274Hom.: 0 Cov.: 28 AF XY: 0.00 AC XY: 0AN XY: 711436
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152132Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.770C>G (p.A257G) alteration is located in exon 5 (coding exon 4) of the ANKIB1 gene. This alteration results from a C to G substitution at nucleotide position 770, causing the alanine (A) at amino acid position 257 to be replaced by a glycine (G). 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