15-66337016-A-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_017858.3(TIPIN):āc.848T>Cā(p.Phe283Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000369 in 1,613,768 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_017858.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TIPIN | NM_017858.3 | c.848T>C | p.Phe283Ser | missense_variant | 8/8 | ENST00000261881.9 | NP_060328.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TIPIN | ENST00000261881.9 | c.848T>C | p.Phe283Ser | missense_variant | 8/8 | 1 | NM_017858.3 | ENSP00000261881 | P1 | |
TIPIN | ENST00000562124.5 | c.848T>C | p.Phe283Ser | missense_variant | 8/8 | 5 | ENSP00000457406 | |||
TIPIN | ENST00000566524.5 | c.*547T>C | 3_prime_UTR_variant, NMD_transcript_variant | 7/7 | 2 | ENSP00000455656 |
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000994 AC: 25AN: 251390Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135868
GnomAD4 exome AF: 0.000393 AC: 574AN: 1461570Hom.: 2 Cov.: 30 AF XY: 0.000377 AC XY: 274AN XY: 727046
GnomAD4 genome AF: 0.000145 AC: 22AN: 152198Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 27, 2021 | The c.848T>C (p.F283S) alteration is located in exon 8 (coding exon 7) of the TIPIN gene. This alteration results from a T to C substitution at nucleotide position 848, causing the phenylalanine (F) at amino acid position 283 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