U.S. flag

An official website of the United States government

NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro) AND Intellectual disability-hypotonic facies syndrome, X-linked, 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 17, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002795908.2

Allele description [Variation Report for NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)]

NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)

Gene:
ATRX:ATRX chromatin remodeler [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)
HGVS:
  • NC_000023.11:g.77589924A>G
  • NG_008838.3:g.201346T>C
  • NM_000489.6:c.6127T>CMANE SELECT
  • NM_138270.5:c.6013T>C
  • NP_000480.3:p.Ser2043Pro
  • NP_000480.3:p.Ser2043Pro
  • NP_612114.2:p.Ser2005Pro
  • LRG_1153t1:c.6127T>C
  • LRG_1153:g.201346T>C
  • LRG_1153p1:p.Ser2043Pro
  • NC_000023.10:g.76845394A>G
  • NM_000489.5:c.6127T>C
Protein change:
S2005P
Molecular consequence:
  • NM_000489.6:c.6127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138270.5:c.6013T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability-hypotonic facies syndrome, X-linked, 1 (MRXHF1)
Synonyms:
XLMR-HYPOTONIC FACIES SYNDROME; Smith Fineman Myers syndrome 1; X-linked intellectual disability-hypotonic face syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010663; MedGen: C4759781; Orphanet: 73220; Orphanet: 93970; Orphanet: 93971; Orphanet: 93972; Orphanet: 93973; Orphanet: 93974; Orphanet: 93975; OMIM: 309580

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003035397Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
criteria provided, single submitter

(ACGS Guidelines, 2020)		Likely pathogenic
(Jan 17, 2023) 		inheritedclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV003035397.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024