rs1277017
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001144937.3(FNDC7):c.2054C>T(p.Pro685Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0046 in 1,613,942 control chromosomes in the GnomAD database, including 301 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P685T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001144937.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FNDC7 | NM_001144937.3 | c.2054C>T | p.Pro685Leu | missense_variant | 10/13 | ENST00000370017.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FNDC7 | ENST00000370017.9 | c.2054C>T | p.Pro685Leu | missense_variant | 10/13 | 5 | NM_001144937.3 | P1 | |
FNDC7 | ENST00000445274.1 | c.1382C>T | p.Pro461Leu | missense_variant | 6/8 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0237 AC: 3605AN: 151960Hom.: 143 Cov.: 31
GnomAD3 exomes AF: 0.00618 AC: 1549AN: 250616Hom.: 63 AF XY: 0.00441 AC XY: 598AN XY: 135566
GnomAD4 exome AF: 0.00261 AC: 3822AN: 1461864Hom.: 158 Cov.: 32 AF XY: 0.00224 AC XY: 1631AN XY: 727236
GnomAD4 genome ? AF: 0.0237 AC: 3607AN: 152078Hom.: 143 Cov.: 31 AF XY: 0.0231 AC XY: 1721AN XY: 74350
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at