2-157427382-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004288.5(CYTIP):c.515C>T(p.Thr172Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000653 in 1,608,884 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (★).
Frequency
Consequence
NM_004288.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYTIP | NM_004288.5 | c.515C>T | p.Thr172Met | missense_variant | 6/8 | ENST00000264192.8 | |
CYTIP | XM_017005386.3 | c.197C>T | p.Thr66Met | missense_variant | 6/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYTIP | ENST00000264192.8 | c.515C>T | p.Thr172Met | missense_variant | 6/8 | 1 | NM_004288.5 | P1 | |
CYTIP | ENST00000418920.5 | c.197C>T | p.Thr66Met | missense_variant | 7/9 | 5 | |||
CYTIP | ENST00000457793.6 | c.*410C>T | 3_prime_UTR_variant, NMD_transcript_variant | 7/9 | 5 |
Frequencies
GnomAD3 genomes AF: 0.000389 AC: 59AN: 151778Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000110 AC: 27AN: 245372Hom.: 0 AF XY: 0.000143 AC XY: 19AN XY: 132758
GnomAD4 exome AF: 0.0000316 AC: 46AN: 1457106Hom.: 0 Cov.: 30 AF XY: 0.0000455 AC XY: 33AN XY: 724684
GnomAD4 genome AF: 0.000389 AC: 59AN: 151778Hom.: 0 Cov.: 32 AF XY: 0.000621 AC XY: 46AN XY: 74062
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 11, 2021 | The c.515C>T (p.T172M) alteration is located in exon 6 (coding exon 6) of the CYTIP gene. This alteration results from a C to T substitution at nucleotide position 515, causing the threonine (T) at amino acid position 172 to be replaced by a methionine (M). 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