rs2291943
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Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_054027.6(ANKH):c.517-52A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0812 in 1,575,912 control chromosomes in the GnomAD database, including 11,367 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.17 ( 4198 hom., cov: 33)
Exomes 𝑓: 0.072 ( 7169 hom. )
Consequence
ANKH
NM_054027.6 intron
NM_054027.6 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: -1.70
Genes affected
ANKH (HGNC:15492): (ANKH inorganic pyrophosphate transport regulator) This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.94).
BP6
?
Variant 5-14751291-T-C is Benign according to our data. Variant chr5-14751291-T-C is described in ClinVar as [Benign]. Clinvar id is 1238126.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.414 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANKH | NM_054027.6 | c.517-52A>G | intron_variant | ENST00000284268.8 | |||
ANKH | XM_011514067.2 | c.517-52A>G | intron_variant | ||||
ANKH | XM_017009644.3 | c.433-52A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKH | ENST00000284268.8 | c.517-52A>G | intron_variant | 1 | NM_054027.6 | P1 | |||
ANKH | ENST00000503939.5 | n.29-52A>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.171 AC: 25944AN: 152054Hom.: 4167 Cov.: 33
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GnomAD3 exomes AF: 0.115 AC: 27890AN: 241628Hom.: 3221 AF XY: 0.0996 AC XY: 13029AN XY: 130864
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GnomAD4 exome AF: 0.0716 AC: 101959AN: 1423740Hom.: 7169 Cov.: 24 AF XY: 0.0690 AC XY: 48967AN XY: 709966
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GnomAD4 genome ? AF: 0.171 AC: 26035AN: 152172Hom.: 4198 Cov.: 33 AF XY: 0.169 AC XY: 12549AN XY: 74420
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 10, 2018 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at