Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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Variant: NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser)

CA295170

159933 (ClinVar)

Gene: SLC9A6
Condition: Christianson syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: b32cef3b-1a71-4c9f-9ec6-004e6cc38d60
Approved on: 2021-03-26
Published on: 2021-05-17

HGVS expressions

NM_001042537.1:c.25G>T
NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser)
ENST00000370695.8:c.25G>T
ENST00000370701.6:c.-57+50G>T
ENST00000630721.3:c.-57+50G>T
ENST00000636092.1:c.-56-76G>T
ENST00000636347.1:c.-35-97G>T
ENST00000637195.1:c.-35-97G>T
ENST00000637234.1:c.-56-76G>T
ENST00000637581.1:c.-56-76G>T
ENST00000678163.1:c.25G>T
ENST00000370695.6:c.25G>T
ENST00000370698.7:c.25G>T
ENST00000370701.5:c.-57+50G>T
ENST00000627534.2:c.-57+55G>T
NM_001177651.1:c.-57+50G>T
NM_006359.2:c.25G>T
NM_001330652.1:c.-57+55G>T
NM_001177651.2:c.-57+50G>T
NM_001330652.2:c.-57+55G>T
NM_006359.3:c.25G>T
NM_001042537.2:c.25G>T
NM_001379110.1:c.-57+50G>T
NC_000023.11:g.135985527G>T
CM000685.2:g.135985527G>T
NC_000023.10:g.135067686G>T
CM000685.1:g.135067686G>T
NC_000023.9:g.134895352G>T
NG_017160.1:g.5101G>T

Benign

Met criteria codes 2
BA1 BP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The allele frequency of the p.Ala9Ser variant in SLC9A6 is 0.307% in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). Computational analysis prediction tools suggest that the p.Ala9Ser variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Ala9Ser variant in SLC9A6 is classified as benign based on the ACMG/AMP criteria (BA1, BP4).
Met criteria codes
BA1
The allele frequency of the p.Ala9Ser variant in SLC9A6 is 0.307% in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions.
BP4
Computational analysis prediction tools suggest that the p.Ala9Ser variant does not have a deleterious impact; however this information does not predict clinical significance on its own
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