chr10-96955129-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_032440.4(LCOR):c.509C>T(p.Ser170Phe) variant causes a missense change. The variant allele was found at a frequency of 0.0000607 in 1,614,178 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032440.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LCOR | NM_001346516.2 | c.332+2933C>T | intron_variant | Intron 7 of 7 | ENST00000421806.4 | NP_001333445.1 | ||
LCOR | NM_001170765.2 | c.509C>T | p.Ser170Phe | missense_variant | Exon 8 of 8 | NP_001164236.1 | ||
LCOR | NM_032440.4 | c.509C>T | p.Ser170Phe | missense_variant | Exon 8 of 8 | NP_115816.2 | ||
LCOR | NM_001170766.2 | c.509C>T | p.Ser170Phe | missense_variant | Exon 8 of 9 | NP_001164237.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251384Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135860
GnomAD4 exome AF: 0.0000636 AC: 93AN: 1461878Hom.: 0 Cov.: 33 AF XY: 0.0000619 AC XY: 45AN XY: 727242
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152300Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74462
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.509C>T (p.S170F) alteration is located in exon 8 (coding exon 3) of the LCOR gene. This alteration results from a C to T substitution at nucleotide position 509, causing the serine (S) at amino acid position 170 to be replaced by a phenylalanine (F). 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