chr7-92352566-T-C
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PP2BP4_Moderate
The NM_019004.2(ANKIB1):c.1321T>C(p.Ser441Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,613,486 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 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.1321T>C | p.Ser441Pro | missense_variant | 9/20 | ENST00000265742.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKIB1 | ENST00000265742.8 | c.1321T>C | p.Ser441Pro | missense_variant | 9/20 | 1 | NM_019004.2 | P1 | |
ANKIB1 | ENST00000413588.1 | c.*236T>C | 3_prime_UTR_variant, NMD_transcript_variant | 5/6 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248756Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134988
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461288Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 726944
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152198Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2022 | The c.1321T>C (p.S441P) alteration is located in exon 9 (coding exon 8) of the ANKIB1 gene. This alteration results from a T to C substitution at nucleotide position 1321, causing the serine (S) at amino acid position 441 to be replaced by a proline (P). 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