rs763294014
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_StrongBP6_ModerateBP7
The NM_006158.5(NEFL):c.621C>T(p.Ala207=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000934 in 1,606,090 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. A207A) has been classified as Likely benign.
Frequency
Consequence
NM_006158.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEFL | NM_006158.5 | c.621C>T | p.Ala207= | synonymous_variant | 1/4 | ENST00000610854.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEFL | ENST00000610854.2 | c.621C>T | p.Ala207= | synonymous_variant | 1/4 | 1 | NM_006158.5 | P1 | |
NEFL | ENST00000615973.1 | n.827C>T | non_coding_transcript_exon_variant | 1/1 | |||||
ENST00000607735.2 | upstream_gene_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152194Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000500 AC: 12AN: 239906Hom.: 0 AF XY: 0.0000456 AC XY: 6AN XY: 131554
GnomAD4 exome AF: 0.00000825 AC: 12AN: 1453780Hom.: 0 Cov.: 36 AF XY: 0.0000111 AC XY: 8AN XY: 723706
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152310Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74474
ClinVar
Submissions by phenotype
Charcot-Marie-Tooth disease type 2E Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Oct 26, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at