6-122779865-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001446.5(FABP7):c.71T>C(p.Leu24Pro) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000514 in 1,613,282 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001446.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FABP7 | NM_001446.5 | c.71T>C | p.Leu24Pro | missense_variant, splice_region_variant | 1/4 | ENST00000368444.8 | |
FABP7 | NM_001319039.2 | c.71T>C | p.Leu24Pro | missense_variant, splice_region_variant | 1/3 | ||
FABP7 | NM_001319041.2 | c.71T>C | p.Leu24Pro | missense_variant, splice_region_variant | 1/2 | ||
FABP7 | NM_001319042.2 | c.62-426T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FABP7 | ENST00000368444.8 | c.71T>C | p.Leu24Pro | missense_variant, splice_region_variant | 1/4 | 1 | NM_001446.5 | P1 | |
FABP7 | ENST00000356535.4 | c.71T>C | p.Leu24Pro | missense_variant, splice_region_variant | 1/3 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000460 AC: 7AN: 152172Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000119 AC: 30AN: 251148Hom.: 0 AF XY: 0.000162 AC XY: 22AN XY: 135716
GnomAD4 exome AF: 0.0000520 AC: 76AN: 1460992Hom.: 0 Cov.: 30 AF XY: 0.0000770 AC XY: 56AN XY: 726846
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152290Hom.: 1 Cov.: 32 AF XY: 0.0000671 AC XY: 5AN XY: 74474
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 12, 2021 | The c.71T>C (p.L24P) alteration is located in exon 1 (coding exon 1) of the FABP7 gene. This alteration results from a T to C substitution at nucleotide position 71, causing the leucine (L) at amino acid position 24 to be replaced by a proline (P). 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