Table 8. [Fanconi Anemia: Notable Pathogenic Variants by Gene]. - GeneReviews®

Gene ¹	Reference Sequences	DNA Nucleotide Change (Alias ²)	Predicted Protein Change	Comment [Reference]
FANCA	NM_000135.4 NP_000126.2	c.1115_1118delTTGG	p.Val372AlafsTer42	Common in northern Europeans
c.2738A>C	p.His913Pro	Assoc w/slower hematologic disease progression [Bottega et al 2018]
c.2852G>A	p.Arg951Gln
c.2851C>T	p.Arg951Trp
FANCC	NM_000136.3	c.456+4A>T (IVS4+4A>T)	--	Common in Ashkenazi Jewish; also reported in a Japanese cohort ³
NM_000136.3 NP_000127.2	c.37C>T	p.Gln13Ter	Common in northern Europeans ³
c.67delG (322delG)	p.Asp23IlefsTer23	Common in northern Europeans & southern Italy ³
NM_000136.3	c.165+1G>T	--	See Genotype-Phenotype Correlations.
NM_000136.3 NP_000127.2	c.1642C>T	p.Arg548Ter	Common in northern Europeans & southern Italy ³
c.1661T>C	p.Leu554Pro	See Genotype-Phenotype Correlations.
FANCG	NM_004629.2	c.307+1G>C (IVS3+1G>C)	--	Common in Koreans & Japanese
c.925-2A>G (IVS8-2A>G)	--	Common in Brazil & northern Europeans
NM_004629.2 NP_004620.1	c.1183_1192del10 (1184-1194del)	p.Glu395TrpfsTer5	Demuth et al [2000]
c.1480+1G>C (IVS11+1G>C)	p.Trp599ProfsTer49	Common in French Canadians & northern Europeans [Auerbach et al 2003]

Gene ¹

Reference
Sequences

DNA Nucleotide Change (Alias ²)

Predicted Protein
Change

Comment [Reference]

FANCA

NM_000135.4
NP_000126.2

c.1115_1118delTTGG

p.Val372AlafsTer42

Common in northern Europeans

c.2738A>C

p.His913Pro

Assoc w/slower hematologic disease progression [Bottega et al 2018]

c.2852G>A

p.Arg951Gln

c.2851C>T

p.Arg951Trp

FANCC

NM_000136.3

c.456+4A>T
(IVS4+4A>T)

Common in Ashkenazi Jewish; also reported in a Japanese cohort ³

NM_000136.3
NP_000127.2

c.37C>T

p.Gln13Ter

Common in northern Europeans ³

c.67delG
(322delG)

p.Asp23IlefsTer23

Common in northern Europeans & southern Italy ³

NM_000136.3

c.165+1G>T

See Genotype-Phenotype Correlations.

NM_000136.3
NP_000127.2

c.1642C>T

p.Arg548Ter

Common in northern Europeans & southern Italy ³

c.1661T>C

p.Leu554Pro

See Genotype-Phenotype Correlations.

FANCG

NM_004629.2

c.307+1G>C
(IVS3+1G>C)

Common in Koreans & Japanese

c.925-2A>G
(IVS8-2A>G)

Common in Brazil & northern Europeans

NM_004629.2
NP_004620.1

c.1183_1192del10
(1184-1194del)

p.Glu395TrpfsTer5

Demuth et al [2000]

c.1480+1G>C
(IVS11+1G>C)

p.Trp599ProfsTer49

Common in French Canadians & northern Europeans [Auerbach et al 2003]

From: Fanconi Anemia

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