3-13570887-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001004019.2(FBLN2):c.532C>T(p.His178Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,612,208 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_001004019.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FBLN2 | NM_001004019.2 | c.532C>T | p.His178Tyr | missense_variant | 2/18 | ENST00000404922.8 | |
FBLN2 | NM_001165035.2 | c.532C>T | p.His178Tyr | missense_variant | 2/18 | ||
FBLN2 | NM_001998.3 | c.532C>T | p.His178Tyr | missense_variant | 2/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FBLN2 | ENST00000404922.8 | c.532C>T | p.His178Tyr | missense_variant | 2/18 | 5 | NM_001004019.2 | P1 | |
FBLN2 | ENST00000295760.11 | c.532C>T | p.His178Tyr | missense_variant | 2/17 | 1 | |||
FBLN2 | ENST00000492059.5 | c.532C>T | p.His178Tyr | missense_variant | 2/18 | 2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152238Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 245732Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133754
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459970Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 726206
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152238Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 10, 2023 | The c.532C>T (p.H178Y) alteration is located in exon 2 (coding exon 1) of the FBLN2 gene. This alteration results from a C to T substitution at nucleotide position 532, causing the histidine (H) at amino acid position 178 to be replaced by a tyrosine (Y). 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