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NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs) AND Borjeson-Forssman-Lehmann syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 9, 2017
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:
RCV000578312.6

Allele description [Variation Report for NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs)]

NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs)

Gene:
PHF6:PHD finger protein 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xq26.2
Genomic location:
Preferred name:
NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs)
HGVS:
  • NC_000023.11:g.134377646_134377647dup
  • NG_008886.1:g.9335_9336dup
  • NM_001015877.2:c.29_30dupMANE SELECT
  • NM_032335.3:c.29_30dup
  • NM_032458.3:c.29_30dup
  • NP_001015877.1:p.Pro11fs
  • NP_115711.2:p.Pro11fs
  • NP_115834.1:p.Pro11fs
  • LRG_629t2:c.29_30dup
  • LRG_629:g.9335_9336dup
  • LRG_629p2:p.Pro11fs
  • NC_000023.10:g.133511676_133511677dup
Protein change:
P11fs
Links:
dbSNP: rs1556013203
NCBI 1000 Genomes Browser:
rs1556013203
Molecular consequence:
  • NM_001015877.2:c.29_30dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_032335.3:c.29_30dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_032458.3:c.29_30dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Borjeson-Forssman-Lehmann syndrome (BFLS)
Synonyms:
BORJESON SYNDROME; Mental deficiency, epilepsy and endocrine disorders; MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010537; MedGen: C0265339; Orphanet: 127; OMIM: 301900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000680332Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Pathogenic
(Dec 9, 2017) 		maternalclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot provided1not providedclinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000680332.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1bloodnot provided1not providednot providednot provided

Last Updated: Apr 13, 2025