1-11786618-TTTTG-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_005957(MTHFR):c.*4058_*4061del variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: 𝑓 0.0 ( 0 hom., cov: 30)
Failed GnomAD Quality Control
Consequence
MTHFR
NM_005957 3_prime_UTR
NM_005957 3_prime_UTR
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.748
Links
ACMG classification
Classification made for transcript
Verdict is Uncertain_significance.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MTHFR | NM_005957.5 | c.*4058_*4061del | 3_prime_UTR_variant | 12/12 | ENST00000376590.9 | ||
C1orf167 | NM_001010881.2 | c.3568-768_3568-765del | intron_variant | ENST00000688073.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MTHFR | ENST00000376590.9 | c.*4058_*4061del | 3_prime_UTR_variant | 12/12 | 1 | NM_005957.5 | A1 | ||
C1orf167 | ENST00000688073.1 | c.3568-768_3568-765del | intron_variant | NM_001010881.2 | A2 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 10AN: 111598Hom.: 0 Cov.: 30 FAILED QC
GnomAD3 genomes
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10
AN:
111598
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30
FAILED QC
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ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Neural tube defects, folate-sensitive Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
Computational scores
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Splicing
Find out SpliceAI and Pangolin per-transcript scores at