5-80058718-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003248.6(THBS4):c.660C>G(p.Asn220Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,138 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003248.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
THBS4 | ENST00000350881.6 | c.660C>G | p.Asn220Lys | missense_variant | Exon 5 of 22 | 1 | NM_003248.6 | ENSP00000339730.2 | ||
THBS4 | ENST00000511733.1 | c.387C>G | p.Asn129Lys | missense_variant | Exon 5 of 22 | 2 | ENSP00000422298.1 | |||
THBS4-AS1 | ENST00000503007.5 | n.429-5817G>C | intron_variant | Intron 3 of 3 | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152138Hom.: 0 Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152138Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74296
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.660C>G (p.N220K) alteration is located in exon 5 (coding exon 5) of the THBS4 gene. This alteration results from a C to G substitution at nucleotide position 660, causing the asparagine (N) at amino acid position 220 to be replaced by a lysine (K). 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