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NM_015107.3(PHF8):c.1620del (p.Ala541fs) AND Syndromic X-linked intellectual disability Siderius type

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 19, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001376118.1

Allele description [Variation Report for NM_015107.3(PHF8):c.1620del (p.Ala541fs)]

NM_015107.3(PHF8):c.1620del (p.Ala541fs)

Gene:
PHF8:PHD finger protein 8 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
NM_015107.3(PHF8):c.1620del (p.Ala541fs)
HGVS:
  • NC_000023.11:g.53993609del
  • NG_021309.1:g.56530del
  • NM_001184896.1:c.1728del
  • NM_001184897.2:c.1324-768del
  • NM_001184898.2:c.1620del
  • NM_015107.3:c.1620delMANE SELECT
  • NP_001171825.1:p.Ala577fs
  • NP_001171827.1:p.Ala541fs
  • NP_055922.1:p.Ala541fs
  • NC_000023.10:g.54020042del
Protein change:
A541fs
Links:
dbSNP: rs2149839580
NCBI 1000 Genomes Browser:
rs2149839580
Molecular consequence:
  • NM_001184896.1:c.1728del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001184898.2:c.1620del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015107.3:c.1620del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001184897.2:c.1324-768del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Syndromic X-linked intellectual disability Siderius type (MRXSSD)
Synonyms:
Intellectual deficit X-linked Siderius type; Siderius Hamel syndrome; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SIDERIUS TYPE
Identifiers:
MONDO: MONDO:0010286; MedGen: C1846055; Orphanet: 85287; OMIM: 300263

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001441637Shieh Lab, University of California, San Francisco
no assertion criteria provided
Uncertain significance
(Oct 19, 2020) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Shieh Lab, University of California, San Francisco, SCV001441637.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023