rs779744960
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Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_002506.3(NGF):c.561C>T(p.Ser187=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000126 in 1,614,012 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 (★).
Frequency
Genomes: 𝑓 0.000059 ( 0 hom., cov: 32)
Exomes 𝑓: 0.00013 ( 0 hom. )
Consequence
NGF
NM_002506.3 synonymous
NM_002506.3 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.428
Genes affected
NGF (HGNC:7808): (nerve growth factor) This gene is a member of the NGF-beta family and encodes a secreted protein which homodimerizes and is incorporated into a larger complex. This protein has nerve growth stimulating activity and the complex is involved in the regulation of growth and the differentiation of sympathetic and certain sensory neurons. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy, type 5 (HSAN5), and dysregulation of this gene's expression is associated with allergic rhinitis. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -3 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.4).
BP6
Variant 1-115286235-G-A is Benign according to our data. Variant chr1-115286235-G-A is described in ClinVar as [Likely_benign]. Clinvar id is 456635.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=-0.428 with no splicing effect.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NGF | NM_002506.3 | c.561C>T | p.Ser187= | synonymous_variant | 3/3 | ENST00000369512.3 | NP_002497.2 | |
NGF-AS1 | NR_157569.1 | n.207+2995G>A | intron_variant, non_coding_transcript_variant | |||||
NGF | XM_011541518.3 | c.726C>T | p.Ser242= | synonymous_variant | 3/3 | XP_011539820.1 | ||
NGF | XM_006710663.4 | c.561C>T | p.Ser187= | synonymous_variant | 2/2 | XP_006710726.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NGF | ENST00000369512.3 | c.561C>T | p.Ser187= | synonymous_variant | 3/3 | 1 | NM_002506.3 | ENSP00000358525 | P1 | |
NGF-AS1 | ENST00000425449.1 | n.207+2995G>A | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152122Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.0000795 AC: 20AN: 251490Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135922
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GnomAD4 exome AF: 0.000133 AC: 194AN: 1461890Hom.: 0 Cov.: 30 AF XY: 0.000129 AC XY: 94AN XY: 727244
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GnomAD4 genome AF: 0.0000592 AC: 9AN: 152122Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74308
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Congenital sensory neuropathy with selective loss of small myelinated fibers Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Aug 03, 2022 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at