chr5-140526166-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_017747.3(ANKHD1):c.4663C>T(p.Pro1555Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,352 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_017747.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANKHD1 | NM_017747.3 | c.4663C>T | p.Pro1555Ser | missense_variant | 26/34 | ENST00000360839.7 | |
ANKHD1-EIF4EBP3 | NM_020690.6 | c.4663C>T | p.Pro1555Ser | missense_variant | 26/36 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKHD1 | ENST00000360839.7 | c.4663C>T | p.Pro1555Ser | missense_variant | 26/34 | 1 | NM_017747.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461352Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727006
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 05, 2022 | The c.4663C>T (p.P1555S) alteration is located in exon 26 (coding exon 26) of the ANKHD1-EIF4EBP3 gene. This alteration results from a C to T substitution at nucleotide position 4663, causing the proline (P) at amino acid position 1555 to be replaced by a serine (S). 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
Publications
No publications associated with this variant yet.