rs763160605
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 1P and 10B. PP2BP4_StrongBP6_ModerateBS2
The NM_001999.4(FBN2):āc.6490A>Gā(p.Ser2164Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000156 in 1,601,670 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 Benign (ā ).
Frequency
Consequence
NM_001999.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FBN2 | NM_001999.4 | c.6490A>G | p.Ser2164Gly | missense_variant | 51/65 | ENST00000262464.9 | NP_001990.2 | |
FBN2 | XM_017009228.3 | c.6337A>G | p.Ser2113Gly | missense_variant | 50/64 | XP_016864717.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FBN2 | ENST00000262464.9 | c.6490A>G | p.Ser2164Gly | missense_variant | 51/65 | 1 | NM_001999.4 | ENSP00000262464.4 | ||
FBN2 | ENST00000703783.1 | n.3274A>G | non_coding_transcript_exon_variant | 26/38 | ||||||
FBN2 | ENST00000703785.1 | n.3193A>G | non_coding_transcript_exon_variant | 25/27 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152180Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 250980Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135668
GnomAD4 exome AF: 0.0000152 AC: 22AN: 1449490Hom.: 0 Cov.: 27 AF XY: 0.0000166 AC XY: 12AN XY: 722106
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152180Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74342
ClinVar
Submissions by phenotype
Congenital contractural arachnodactyly Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Sep 07, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at