rs55780505
Your query was ambiguous. Multiple possible variants found:
- chr1-11786602-ATTTTTTTTT-A
- chr1-11786602-ATTTTTTTTT-AT
- chr1-11786602-ATTTTTTTTT-ATT
- chr1-11786602-ATTTTTTTTT-ATTT
- chr1-11786602-ATTTTTTTTT-ATTTT
- chr1-11786602-ATTTTTTTTT-ATTTTT
- chr1-11786602-ATTTTTTTTT-ATTTTTT
- chr1-11786602-ATTTTTTTTT-ATTTTTTT
- chr1-11786602-ATTTTTTTTT-ATTTTTTTT
- chr1-11786602-ATTTTTTTTT-ATTTTTTTTTT
- chr1-11786602-ATTTTTTTTT-ATTTTTTTTTTT
- chr1-11786602-ATTTTTTTTT-ATTTTTTTTTTTT
- chr1-11786602-ATTTTTTTTT-ATTTTTTTTTTTTT
- chr1-11786602-ATTTTTTTTT-ATTTTTTTTTTTTTT
- chr1-11786602-ATTTTTTTTT-ATTTTTTTTTTTTTTT
- chr1-11786602-ATTTTTTTTT-ATTTTTTTTTTTTTTTT
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_005957.5(MTHFR):c.*4069_*4077delAAAAAAAAA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0000070 ( 0 hom., cov: 0)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
MTHFR
NM_005957.5 3_prime_UTR
NM_005957.5 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.308
Publications
3 publications found
Genes affected
MTHFR (HGNC:7436): (methylenetetrahydrofolate reductase) The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
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ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| MTHFR | NM_005957.5 | c.*4069_*4077delAAAAAAAAA | 3_prime_UTR_variant | Exon 12 of 12 | ENST00000376590.9 | NP_005948.3 | ||
| C1orf167 | NM_001010881.2 | c.3568-775_3568-767delTTTTTTTTT | intron_variant | Intron 16 of 20 | ENST00000688073.1 | NP_001010881.1 |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| MTHFR | ENST00000376590.9 | c.*4069_*4077delAAAAAAAAA | 3_prime_UTR_variant | Exon 12 of 12 | 1 | NM_005957.5 | ENSP00000365775.3 | |||
| C1orf167 | ENST00000688073.1 | c.3568-775_3568-767delTTTTTTTTT | intron_variant | Intron 16 of 20 | NM_001010881.2 | ENSP00000510540.1 |
Frequencies
GnomAD3 genomes 0.00000703 AC: 1AN: 142192Hom.: 0 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
1
AN:
142192
Hom.:
Cov.:
0
Gnomad AFR
AF:
Gnomad AMI
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Gnomad AMR
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Gnomad EAS
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Gnomad NFE
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Gnomad OTH
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GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 4Hom.: 0 AC XY: 0AN XY: 0
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
4
Hom.:
AC XY:
0
AN XY:
0
African (AFR)
AC:
0
AN:
0
American (AMR)
AC:
0
AN:
0
Ashkenazi Jewish (ASJ)
AC:
0
AN:
0
East Asian (EAS)
AC:
0
AN:
0
South Asian (SAS)
AC:
0
AN:
0
European-Finnish (FIN)
AC:
0
AN:
0
Middle Eastern (MID)
AC:
0
AN:
0
European-Non Finnish (NFE)
AF:
AC:
0
AN:
4
Other (OTH)
AC:
0
AN:
0
GnomAD4 genome 0.00000703 AC: 1AN: 142192Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 68402 show subpopulations
GnomAD4 genome
AF:
AC:
1
AN:
142192
Hom.:
Cov.:
0
AF XY:
AC XY:
0
AN XY:
68402
show subpopulations
African (AFR)
AF:
AC:
0
AN:
38578
American (AMR)
AF:
AC:
0
AN:
14330
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3370
East Asian (EAS)
AF:
AC:
0
AN:
4790
South Asian (SAS)
AF:
AC:
0
AN:
4400
European-Finnish (FIN)
AF:
AC:
0
AN:
8022
Middle Eastern (MID)
AF:
AC:
0
AN:
296
European-Non Finnish (NFE)
AF:
AC:
1
AN:
65568
Other (OTH)
AF:
AC:
0
AN:
1952
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.575
Heterozygous variant carriers
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Allele balance
Age Distribution
Genome Het
Variant carriers
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Age
Alfa
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ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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